Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
Abstract Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it m...
Ausführliche Beschreibung
Autor*in: |
Dundar, Munis [verfasserIn] |
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E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2022 |
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Anmerkung: |
© The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2021 |
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Übergeordnetes Werk: |
Enthalten in: Functional & integrative genomics - Berlin : Springer, 2000, 22(2022), 3 vom: 31. Jan., Seite 291-315 |
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Übergeordnetes Werk: |
volume:22 ; year:2022 ; number:3 ; day:31 ; month:01 ; pages:291-315 |
Links: |
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DOI / URN: |
10.1007/s10142-021-00819-3 |
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SPR047272333 |
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245 | 1 | 0 | |a Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium |
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520 | |a Abstract Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease. | ||
650 | 4 | |a Familial Mediterranean fever |7 (dpeaa)DE-He213 | |
650 | 4 | |a Genotype-phenotype correlations |7 (dpeaa)DE-He213 | |
650 | 4 | |a National Genetics Consortium |7 (dpeaa)DE-He213 | |
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2022 |
allfields |
10.1007/s10142-021-00819-3 doi (DE-627)SPR047272333 (SPR)s10142-021-00819-3-e DE-627 ger DE-627 rakwb eng Dundar, Munis verfasserin (orcid)0000-0003-0969-4611 aut Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2021 Abstract Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease. Familial Mediterranean fever (dpeaa)DE-He213 Genotype-phenotype correlations (dpeaa)DE-He213 National Genetics Consortium (dpeaa)DE-He213 Fahrioglu, Umut aut Yildiz, Saliha Handan aut Bakir-Gungor, Burcu aut Temel, Sehime Gulsun aut Akin, Haluk aut Artan, Sevilhan aut Cora, Tulin aut Sahin, Feride Iffet aut Dursun, Ahmet aut Sezer, Ozlem aut Gurkan, Hakan aut Erdogan, Murat aut Gunduz, C. Nur Semerci aut Bisgin, Atil aut Ozdemir, Ozturk aut Ulgenalp, Ayfer aut Percin, E. Ferda aut Yildirim, Malik Ejder aut Tekes, Selahaddin aut Bagis, Haydar aut Yuce, Huseyin aut Duman, Nilgun aut Bozkurt, Gokay aut Yararbas, Kanay aut Yildirim, Mahmut Selman aut Arman, Ahmet aut Mihci, Ercan aut Eraslan, Serpil aut Altintas, Zuhal Mert aut Aymelek, Huri Sema aut Ruhi, Hatice Ilgin aut Tatar, Abdulgani aut Ergoren, Mahmut Cerkez aut Cetin, G. Ozan aut Altunoglu, Umut aut Caglayan, Ahmet Okay aut Yuksel, Berrin aut Ozkul, Yusuf aut Saatci, Cetin aut Kenanoglu, Sercan aut Karasu, Nilgun aut Dundar, Bilge aut Ozcelik, Firat aut Demir, Mikail aut Siniksaran, Betul Seyhan aut Kulak, Hande aut Kiranatlioglu, Kubra aut Baysal, Kubra aut Kazimli, Ulviyya aut Akalin, Hilal aut Dundar, Ayca aut Boz, Mehmet aut Bayram, Arslan aut Subasioglu, Asli aut Colak, Fatma Kurt aut Karaduman, Neslihan aut Gunes, Meltem Cerrah aut Kandemir, Nefise aut Aynekin, Busra aut Emekli, Rabia aut Sahin, Izem Olcay aut Ozdemir, Sevda Yesim aut Onal, Muge Gulcihan aut Senel, Abdurrahman Soner aut Poyrazoglu, Muammer Hakan aut Kisaarslan, Ayse Nur Pac aut Gursoy, Sebnem aut Baskol, Mevlut aut Calis, Mustafa aut Demir, Huseyin aut Zararsiz, Gozde Erturk aut Erdogan, Mujgan Ozdemir aut Elmas, Muhsin aut Solak, Mustafa aut Ulu, Memnune Sena aut Thahir, Adam aut Aydin, Zafer aut Atasever, Umut aut Sag, Sebnem Ozemri aut Aliyeva, Lamiya aut Alemdar, Adem aut Dogan, Berkcan aut Erguzeloglu, Cemre Ornek aut Kaya, Niyazi aut Ozkinay, Ferda aut Cogulu, Ozgur aut Durmaz, Asude aut Onay, Huseyin aut Karaca, Emin aut Durmaz, Burak aut Aykut, Ayca aut Cilingir, Oguz aut Aras, Beyhan Durak aut Gokalp, Ebru Erzurumluoglu aut Arslan, Serap aut Temena, Arda aut Haziyeva, Konul aut Kocagil, Sinem aut Bas, Hasan aut Susam, Ezgi aut Keklikci, Ali Riza aut Sarac, Elif aut Kocak, Nadir aut Nergiz, Suleyman aut Terzi, Yunus Kasim aut Dincer, Selin Akad aut Baskin, Esra Sidika aut Genc, Gunes Cakmak aut Bahadir, Oguzhan aut Sanri, Aslihan aut Yigit, Serbulent aut Tozkir, Hilmi aut Yalcintepe, Sinem aut Ozkayin, Nese aut Kiraz, Aslihan aut Balta, Burhan aut Gonen, Gizem Akinci aut Kurt, E. Emre aut Ceylan, Gulay Gulec aut Ceylan, Ahmet Cevdet aut Erten, Sukran aut Bozdogan, Sevcan Tug aut Boga, Ibrahim aut Yilmaz, Mustafa aut Silan, Fatma aut Kocabey, Mehmet aut Koc, Altug aut Cankaya, Tufan aut Bora, Elcin aut Bozkaya, Ozlem Giray aut Ercal, Derya aut Ergun, Mehmet Ali aut Ergun, Sezen Guntekin aut Duman, Yesim Sidar aut Beyazit, Serife Busra aut Uzel, Veysiye Hulya aut Em, Serda aut Cevik, Muhammer Ozgur aut Eroz, Recep aut Demirtas, Mercan aut Firat, Cem Koray aut Kabayegit, Zehra Manav aut Altan, Mustafa aut Mardan, Lamiya aut Sayar, Ceyhan aut Tumer, Sait aut Turkgenc, Burcu aut Karakoyun, Hilal Keskin aut Tunc, Betul aut Kuru, Seda aut Zamani, Aysegul aut Geckinli, Bilgen Bilge aut Ates, Esra Arslan aut Clark, Ozden Altiok aut Toylu, Asli aut Coskun, Mert aut Nur, Banu aut Bilge, Ilmay aut Bayramicli, Oya Uygur aut Emmungil, Hakan aut Komesli, Zeynep aut Zeybel, Mujdat aut Gurakan, Figen aut Tasdemir, Mehmet aut Kebudi, Rejin aut Karabulut, Halil Gurhan aut Tuncali, Timur aut Kutlay, Nuket Yurur aut Kahraman, Cigdem Yuce aut Onder, Nerin Bahceciler aut Beyitler, Ilke aut Kavukcu, Salih aut Tulay, Pinar aut Tosun, Ozgur aut Tuncel, Gulten aut Mocan, Gamze aut Kale, Hamdi aut Uyguner, Zehra Oya aut Acar, Aynur aut Altinay, Mert aut Erdem, Levent aut Enthalten in Functional & integrative genomics Berlin : Springer, 2000 22(2022), 3 vom: 31. Jan., Seite 291-315 (DE-627)312404492 (DE-600)2010402-9 1438-7948 nnns volume:22 year:2022 number:3 day:31 month:01 pages:291-315 https://dx.doi.org/10.1007/s10142-021-00819-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_211 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 22 2022 3 31 01 291-315 |
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10.1007/s10142-021-00819-3 doi (DE-627)SPR047272333 (SPR)s10142-021-00819-3-e DE-627 ger DE-627 rakwb eng Dundar, Munis verfasserin (orcid)0000-0003-0969-4611 aut Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2021 Abstract Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease. Familial Mediterranean fever (dpeaa)DE-He213 Genotype-phenotype correlations (dpeaa)DE-He213 National Genetics Consortium (dpeaa)DE-He213 Fahrioglu, Umut aut Yildiz, Saliha Handan aut Bakir-Gungor, Burcu aut Temel, Sehime Gulsun aut Akin, Haluk aut Artan, Sevilhan aut Cora, Tulin aut Sahin, Feride Iffet aut Dursun, Ahmet aut Sezer, Ozlem aut Gurkan, Hakan aut Erdogan, Murat aut Gunduz, C. Nur Semerci aut Bisgin, Atil aut Ozdemir, Ozturk aut Ulgenalp, Ayfer aut Percin, E. Ferda aut Yildirim, Malik Ejder aut Tekes, Selahaddin aut Bagis, Haydar aut Yuce, Huseyin aut Duman, Nilgun aut Bozkurt, Gokay aut Yararbas, Kanay aut Yildirim, Mahmut Selman aut Arman, Ahmet aut Mihci, Ercan aut Eraslan, Serpil aut Altintas, Zuhal Mert aut Aymelek, Huri Sema aut Ruhi, Hatice Ilgin aut Tatar, Abdulgani aut Ergoren, Mahmut Cerkez aut Cetin, G. Ozan aut Altunoglu, Umut aut Caglayan, Ahmet Okay aut Yuksel, Berrin aut Ozkul, Yusuf aut Saatci, Cetin aut Kenanoglu, Sercan aut Karasu, Nilgun aut Dundar, Bilge aut Ozcelik, Firat aut Demir, Mikail aut Siniksaran, Betul Seyhan aut Kulak, Hande aut Kiranatlioglu, Kubra aut Baysal, Kubra aut Kazimli, Ulviyya aut Akalin, Hilal aut Dundar, Ayca aut Boz, Mehmet aut Bayram, Arslan aut Subasioglu, Asli aut Colak, Fatma Kurt aut Karaduman, Neslihan aut Gunes, Meltem Cerrah aut Kandemir, Nefise aut Aynekin, Busra aut Emekli, Rabia aut Sahin, Izem Olcay aut Ozdemir, Sevda Yesim aut Onal, Muge Gulcihan aut Senel, Abdurrahman Soner aut Poyrazoglu, Muammer Hakan aut Kisaarslan, Ayse Nur Pac aut Gursoy, Sebnem aut Baskol, Mevlut aut Calis, Mustafa aut Demir, Huseyin aut Zararsiz, Gozde Erturk aut Erdogan, Mujgan Ozdemir aut Elmas, Muhsin aut Solak, Mustafa aut Ulu, Memnune Sena aut Thahir, Adam aut Aydin, Zafer aut Atasever, Umut aut Sag, Sebnem Ozemri aut Aliyeva, Lamiya aut Alemdar, Adem aut Dogan, Berkcan aut Erguzeloglu, Cemre Ornek aut Kaya, Niyazi aut Ozkinay, Ferda aut Cogulu, Ozgur aut Durmaz, Asude aut Onay, Huseyin aut Karaca, Emin aut Durmaz, Burak aut Aykut, Ayca aut Cilingir, Oguz aut Aras, Beyhan Durak aut Gokalp, Ebru Erzurumluoglu aut Arslan, Serap aut Temena, Arda aut Haziyeva, Konul aut Kocagil, Sinem aut Bas, Hasan aut Susam, Ezgi aut Keklikci, Ali Riza aut Sarac, Elif aut Kocak, Nadir aut Nergiz, Suleyman aut Terzi, Yunus Kasim aut Dincer, Selin Akad aut Baskin, Esra Sidika aut Genc, Gunes Cakmak aut Bahadir, Oguzhan aut Sanri, Aslihan aut Yigit, Serbulent aut Tozkir, Hilmi aut Yalcintepe, Sinem aut Ozkayin, Nese aut Kiraz, Aslihan aut Balta, Burhan aut Gonen, Gizem Akinci aut Kurt, E. Emre aut Ceylan, Gulay Gulec aut Ceylan, Ahmet Cevdet aut Erten, Sukran aut Bozdogan, Sevcan Tug aut Boga, Ibrahim aut Yilmaz, Mustafa aut Silan, Fatma aut Kocabey, Mehmet aut Koc, Altug aut Cankaya, Tufan aut Bora, Elcin aut Bozkaya, Ozlem Giray aut Ercal, Derya aut Ergun, Mehmet Ali aut Ergun, Sezen Guntekin aut Duman, Yesim Sidar aut Beyazit, Serife Busra aut Uzel, Veysiye Hulya aut Em, Serda aut Cevik, Muhammer Ozgur aut Eroz, Recep aut Demirtas, Mercan aut Firat, Cem Koray aut Kabayegit, Zehra Manav aut Altan, Mustafa aut Mardan, Lamiya aut Sayar, Ceyhan aut Tumer, Sait aut Turkgenc, Burcu aut Karakoyun, Hilal Keskin aut Tunc, Betul aut Kuru, Seda aut Zamani, Aysegul aut Geckinli, Bilgen Bilge aut Ates, Esra Arslan aut Clark, Ozden Altiok aut Toylu, Asli aut Coskun, Mert aut Nur, Banu aut Bilge, Ilmay aut Bayramicli, Oya Uygur aut Emmungil, Hakan aut Komesli, Zeynep aut Zeybel, Mujdat aut Gurakan, Figen aut Tasdemir, Mehmet aut Kebudi, Rejin aut Karabulut, Halil Gurhan aut Tuncali, Timur aut Kutlay, Nuket Yurur aut Kahraman, Cigdem Yuce aut Onder, Nerin Bahceciler aut Beyitler, Ilke aut Kavukcu, Salih aut Tulay, Pinar aut Tosun, Ozgur aut Tuncel, Gulten aut Mocan, Gamze aut Kale, Hamdi aut Uyguner, Zehra Oya aut Acar, Aynur aut Altinay, Mert aut Erdem, Levent aut Enthalten in Functional & integrative genomics Berlin : Springer, 2000 22(2022), 3 vom: 31. Jan., Seite 291-315 (DE-627)312404492 (DE-600)2010402-9 1438-7948 nnns volume:22 year:2022 number:3 day:31 month:01 pages:291-315 https://dx.doi.org/10.1007/s10142-021-00819-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_211 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 22 2022 3 31 01 291-315 |
allfields_unstemmed |
10.1007/s10142-021-00819-3 doi (DE-627)SPR047272333 (SPR)s10142-021-00819-3-e DE-627 ger DE-627 rakwb eng Dundar, Munis verfasserin (orcid)0000-0003-0969-4611 aut Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2021 Abstract Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease. Familial Mediterranean fever (dpeaa)DE-He213 Genotype-phenotype correlations (dpeaa)DE-He213 National Genetics Consortium (dpeaa)DE-He213 Fahrioglu, Umut aut Yildiz, Saliha Handan aut Bakir-Gungor, Burcu aut Temel, Sehime Gulsun aut Akin, Haluk aut Artan, Sevilhan aut Cora, Tulin aut Sahin, Feride Iffet aut Dursun, Ahmet aut Sezer, Ozlem aut Gurkan, Hakan aut Erdogan, Murat aut Gunduz, C. Nur Semerci aut Bisgin, Atil aut Ozdemir, Ozturk aut Ulgenalp, Ayfer aut Percin, E. Ferda aut Yildirim, Malik Ejder aut Tekes, Selahaddin aut Bagis, Haydar aut Yuce, Huseyin aut Duman, Nilgun aut Bozkurt, Gokay aut Yararbas, Kanay aut Yildirim, Mahmut Selman aut Arman, Ahmet aut Mihci, Ercan aut Eraslan, Serpil aut Altintas, Zuhal Mert aut Aymelek, Huri Sema aut Ruhi, Hatice Ilgin aut Tatar, Abdulgani aut Ergoren, Mahmut Cerkez aut Cetin, G. Ozan aut Altunoglu, Umut aut Caglayan, Ahmet Okay aut Yuksel, Berrin aut Ozkul, Yusuf aut Saatci, Cetin aut Kenanoglu, Sercan aut Karasu, Nilgun aut Dundar, Bilge aut Ozcelik, Firat aut Demir, Mikail aut Siniksaran, Betul Seyhan aut Kulak, Hande aut Kiranatlioglu, Kubra aut Baysal, Kubra aut Kazimli, Ulviyya aut Akalin, Hilal aut Dundar, Ayca aut Boz, Mehmet aut Bayram, Arslan aut Subasioglu, Asli aut Colak, Fatma Kurt aut Karaduman, Neslihan aut Gunes, Meltem Cerrah aut Kandemir, Nefise aut Aynekin, Busra aut Emekli, Rabia aut Sahin, Izem Olcay aut Ozdemir, Sevda Yesim aut Onal, Muge Gulcihan aut Senel, Abdurrahman Soner aut Poyrazoglu, Muammer Hakan aut Kisaarslan, Ayse Nur Pac aut Gursoy, Sebnem aut Baskol, Mevlut aut Calis, Mustafa aut Demir, Huseyin aut Zararsiz, Gozde Erturk aut Erdogan, Mujgan Ozdemir aut Elmas, Muhsin aut Solak, Mustafa aut Ulu, Memnune Sena aut Thahir, Adam aut Aydin, Zafer aut Atasever, Umut aut Sag, Sebnem Ozemri aut Aliyeva, Lamiya aut Alemdar, Adem aut Dogan, Berkcan aut Erguzeloglu, Cemre Ornek aut Kaya, Niyazi aut Ozkinay, Ferda aut Cogulu, Ozgur aut Durmaz, Asude aut Onay, Huseyin aut Karaca, Emin aut Durmaz, Burak aut Aykut, Ayca aut Cilingir, Oguz aut Aras, Beyhan Durak aut Gokalp, Ebru Erzurumluoglu aut Arslan, Serap aut Temena, Arda aut Haziyeva, Konul aut Kocagil, Sinem aut Bas, Hasan aut Susam, Ezgi aut Keklikci, Ali Riza aut Sarac, Elif aut Kocak, Nadir aut Nergiz, Suleyman aut Terzi, Yunus Kasim aut Dincer, Selin Akad aut Baskin, Esra Sidika aut Genc, Gunes Cakmak aut Bahadir, Oguzhan aut Sanri, Aslihan aut Yigit, Serbulent aut Tozkir, Hilmi aut Yalcintepe, Sinem aut Ozkayin, Nese aut Kiraz, Aslihan aut Balta, Burhan aut Gonen, Gizem Akinci aut Kurt, E. Emre aut Ceylan, Gulay Gulec aut Ceylan, Ahmet Cevdet aut Erten, Sukran aut Bozdogan, Sevcan Tug aut Boga, Ibrahim aut Yilmaz, Mustafa aut Silan, Fatma aut Kocabey, Mehmet aut Koc, Altug aut Cankaya, Tufan aut Bora, Elcin aut Bozkaya, Ozlem Giray aut Ercal, Derya aut Ergun, Mehmet Ali aut Ergun, Sezen Guntekin aut Duman, Yesim Sidar aut Beyazit, Serife Busra aut Uzel, Veysiye Hulya aut Em, Serda aut Cevik, Muhammer Ozgur aut Eroz, Recep aut Demirtas, Mercan aut Firat, Cem Koray aut Kabayegit, Zehra Manav aut Altan, Mustafa aut Mardan, Lamiya aut Sayar, Ceyhan aut Tumer, Sait aut Turkgenc, Burcu aut Karakoyun, Hilal Keskin aut Tunc, Betul aut Kuru, Seda aut Zamani, Aysegul aut Geckinli, Bilgen Bilge aut Ates, Esra Arslan aut Clark, Ozden Altiok aut Toylu, Asli aut Coskun, Mert aut Nur, Banu aut Bilge, Ilmay aut Bayramicli, Oya Uygur aut Emmungil, Hakan aut Komesli, Zeynep aut Zeybel, Mujdat aut Gurakan, Figen aut Tasdemir, Mehmet aut Kebudi, Rejin aut Karabulut, Halil Gurhan aut Tuncali, Timur aut Kutlay, Nuket Yurur aut Kahraman, Cigdem Yuce aut Onder, Nerin Bahceciler aut Beyitler, Ilke aut Kavukcu, Salih aut Tulay, Pinar aut Tosun, Ozgur aut Tuncel, Gulten aut Mocan, Gamze aut Kale, Hamdi aut Uyguner, Zehra Oya aut Acar, Aynur aut Altinay, Mert aut Erdem, Levent aut Enthalten in Functional & integrative genomics Berlin : Springer, 2000 22(2022), 3 vom: 31. Jan., Seite 291-315 (DE-627)312404492 (DE-600)2010402-9 1438-7948 nnns volume:22 year:2022 number:3 day:31 month:01 pages:291-315 https://dx.doi.org/10.1007/s10142-021-00819-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_211 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 22 2022 3 31 01 291-315 |
allfieldsGer |
10.1007/s10142-021-00819-3 doi (DE-627)SPR047272333 (SPR)s10142-021-00819-3-e DE-627 ger DE-627 rakwb eng Dundar, Munis verfasserin (orcid)0000-0003-0969-4611 aut Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2021 Abstract Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease. Familial Mediterranean fever (dpeaa)DE-He213 Genotype-phenotype correlations (dpeaa)DE-He213 National Genetics Consortium (dpeaa)DE-He213 Fahrioglu, Umut aut Yildiz, Saliha Handan aut Bakir-Gungor, Burcu aut Temel, Sehime Gulsun aut Akin, Haluk aut Artan, Sevilhan aut Cora, Tulin aut Sahin, Feride Iffet aut Dursun, Ahmet aut Sezer, Ozlem aut Gurkan, Hakan aut Erdogan, Murat aut Gunduz, C. Nur Semerci aut Bisgin, Atil aut Ozdemir, Ozturk aut Ulgenalp, Ayfer aut Percin, E. Ferda aut Yildirim, Malik Ejder aut Tekes, Selahaddin aut Bagis, Haydar aut Yuce, Huseyin aut Duman, Nilgun aut Bozkurt, Gokay aut Yararbas, Kanay aut Yildirim, Mahmut Selman aut Arman, Ahmet aut Mihci, Ercan aut Eraslan, Serpil aut Altintas, Zuhal Mert aut Aymelek, Huri Sema aut Ruhi, Hatice Ilgin aut Tatar, Abdulgani aut Ergoren, Mahmut Cerkez aut Cetin, G. Ozan aut Altunoglu, Umut aut Caglayan, Ahmet Okay aut Yuksel, Berrin aut Ozkul, Yusuf aut Saatci, Cetin aut Kenanoglu, Sercan aut Karasu, Nilgun aut Dundar, Bilge aut Ozcelik, Firat aut Demir, Mikail aut Siniksaran, Betul Seyhan aut Kulak, Hande aut Kiranatlioglu, Kubra aut Baysal, Kubra aut Kazimli, Ulviyya aut Akalin, Hilal aut Dundar, Ayca aut Boz, Mehmet aut Bayram, Arslan aut Subasioglu, Asli aut Colak, Fatma Kurt aut Karaduman, Neslihan aut Gunes, Meltem Cerrah aut Kandemir, Nefise aut Aynekin, Busra aut Emekli, Rabia aut Sahin, Izem Olcay aut Ozdemir, Sevda Yesim aut Onal, Muge Gulcihan aut Senel, Abdurrahman Soner aut Poyrazoglu, Muammer Hakan aut Kisaarslan, Ayse Nur Pac aut Gursoy, Sebnem aut Baskol, Mevlut aut Calis, Mustafa aut Demir, Huseyin aut Zararsiz, Gozde Erturk aut Erdogan, Mujgan Ozdemir aut Elmas, Muhsin aut Solak, Mustafa aut Ulu, Memnune Sena aut Thahir, Adam aut Aydin, Zafer aut Atasever, Umut aut Sag, Sebnem Ozemri aut Aliyeva, Lamiya aut Alemdar, Adem aut Dogan, Berkcan aut Erguzeloglu, Cemre Ornek aut Kaya, Niyazi aut Ozkinay, Ferda aut Cogulu, Ozgur aut Durmaz, Asude aut Onay, Huseyin aut Karaca, Emin aut Durmaz, Burak aut Aykut, Ayca aut Cilingir, Oguz aut Aras, Beyhan Durak aut Gokalp, Ebru Erzurumluoglu aut Arslan, Serap aut Temena, Arda aut Haziyeva, Konul aut Kocagil, Sinem aut Bas, Hasan aut Susam, Ezgi aut Keklikci, Ali Riza aut Sarac, Elif aut Kocak, Nadir aut Nergiz, Suleyman aut Terzi, Yunus Kasim aut Dincer, Selin Akad aut Baskin, Esra Sidika aut Genc, Gunes Cakmak aut Bahadir, Oguzhan aut Sanri, Aslihan aut Yigit, Serbulent aut Tozkir, Hilmi aut Yalcintepe, Sinem aut Ozkayin, Nese aut Kiraz, Aslihan aut Balta, Burhan aut Gonen, Gizem Akinci aut Kurt, E. Emre aut Ceylan, Gulay Gulec aut Ceylan, Ahmet Cevdet aut Erten, Sukran aut Bozdogan, Sevcan Tug aut Boga, Ibrahim aut Yilmaz, Mustafa aut Silan, Fatma aut Kocabey, Mehmet aut Koc, Altug aut Cankaya, Tufan aut Bora, Elcin aut Bozkaya, Ozlem Giray aut Ercal, Derya aut Ergun, Mehmet Ali aut Ergun, Sezen Guntekin aut Duman, Yesim Sidar aut Beyazit, Serife Busra aut Uzel, Veysiye Hulya aut Em, Serda aut Cevik, Muhammer Ozgur aut Eroz, Recep aut Demirtas, Mercan aut Firat, Cem Koray aut Kabayegit, Zehra Manav aut Altan, Mustafa aut Mardan, Lamiya aut Sayar, Ceyhan aut Tumer, Sait aut Turkgenc, Burcu aut Karakoyun, Hilal Keskin aut Tunc, Betul aut Kuru, Seda aut Zamani, Aysegul aut Geckinli, Bilgen Bilge aut Ates, Esra Arslan aut Clark, Ozden Altiok aut Toylu, Asli aut Coskun, Mert aut Nur, Banu aut Bilge, Ilmay aut Bayramicli, Oya Uygur aut Emmungil, Hakan aut Komesli, Zeynep aut Zeybel, Mujdat aut Gurakan, Figen aut Tasdemir, Mehmet aut Kebudi, Rejin aut Karabulut, Halil Gurhan aut Tuncali, Timur aut Kutlay, Nuket Yurur aut Kahraman, Cigdem Yuce aut Onder, Nerin Bahceciler aut Beyitler, Ilke aut Kavukcu, Salih aut Tulay, Pinar aut Tosun, Ozgur aut Tuncel, Gulten aut Mocan, Gamze aut Kale, Hamdi aut Uyguner, Zehra Oya aut Acar, Aynur aut Altinay, Mert aut Erdem, Levent aut Enthalten in Functional & integrative genomics Berlin : Springer, 2000 22(2022), 3 vom: 31. Jan., Seite 291-315 (DE-627)312404492 (DE-600)2010402-9 1438-7948 nnns volume:22 year:2022 number:3 day:31 month:01 pages:291-315 https://dx.doi.org/10.1007/s10142-021-00819-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_211 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 22 2022 3 31 01 291-315 |
allfieldsSound |
10.1007/s10142-021-00819-3 doi (DE-627)SPR047272333 (SPR)s10142-021-00819-3-e DE-627 ger DE-627 rakwb eng Dundar, Munis verfasserin (orcid)0000-0003-0969-4611 aut Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2021 Abstract Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease. Familial Mediterranean fever (dpeaa)DE-He213 Genotype-phenotype correlations (dpeaa)DE-He213 National Genetics Consortium (dpeaa)DE-He213 Fahrioglu, Umut aut Yildiz, Saliha Handan aut Bakir-Gungor, Burcu aut Temel, Sehime Gulsun aut Akin, Haluk aut Artan, Sevilhan aut Cora, Tulin aut Sahin, Feride Iffet aut Dursun, Ahmet aut Sezer, Ozlem aut Gurkan, Hakan aut Erdogan, Murat aut Gunduz, C. Nur Semerci aut Bisgin, Atil aut Ozdemir, Ozturk aut Ulgenalp, Ayfer aut Percin, E. Ferda aut Yildirim, Malik Ejder aut Tekes, Selahaddin aut Bagis, Haydar aut Yuce, Huseyin aut Duman, Nilgun aut Bozkurt, Gokay aut Yararbas, Kanay aut Yildirim, Mahmut Selman aut Arman, Ahmet aut Mihci, Ercan aut Eraslan, Serpil aut Altintas, Zuhal Mert aut Aymelek, Huri Sema aut Ruhi, Hatice Ilgin aut Tatar, Abdulgani aut Ergoren, Mahmut Cerkez aut Cetin, G. Ozan aut Altunoglu, Umut aut Caglayan, Ahmet Okay aut Yuksel, Berrin aut Ozkul, Yusuf aut Saatci, Cetin aut Kenanoglu, Sercan aut Karasu, Nilgun aut Dundar, Bilge aut Ozcelik, Firat aut Demir, Mikail aut Siniksaran, Betul Seyhan aut Kulak, Hande aut Kiranatlioglu, Kubra aut Baysal, Kubra aut Kazimli, Ulviyya aut Akalin, Hilal aut Dundar, Ayca aut Boz, Mehmet aut Bayram, Arslan aut Subasioglu, Asli aut Colak, Fatma Kurt aut Karaduman, Neslihan aut Gunes, Meltem Cerrah aut Kandemir, Nefise aut Aynekin, Busra aut Emekli, Rabia aut Sahin, Izem Olcay aut Ozdemir, Sevda Yesim aut Onal, Muge Gulcihan aut Senel, Abdurrahman Soner aut Poyrazoglu, Muammer Hakan aut Kisaarslan, Ayse Nur Pac aut Gursoy, Sebnem aut Baskol, Mevlut aut Calis, Mustafa aut Demir, Huseyin aut Zararsiz, Gozde Erturk aut Erdogan, Mujgan Ozdemir aut Elmas, Muhsin aut Solak, Mustafa aut Ulu, Memnune Sena aut Thahir, Adam aut Aydin, Zafer aut Atasever, Umut aut Sag, Sebnem Ozemri aut Aliyeva, Lamiya aut Alemdar, Adem aut Dogan, Berkcan aut Erguzeloglu, Cemre Ornek aut Kaya, Niyazi aut Ozkinay, Ferda aut Cogulu, Ozgur aut Durmaz, Asude aut Onay, Huseyin aut Karaca, Emin aut Durmaz, Burak aut Aykut, Ayca aut Cilingir, Oguz aut Aras, Beyhan Durak aut Gokalp, Ebru Erzurumluoglu aut Arslan, Serap aut Temena, Arda aut Haziyeva, Konul aut Kocagil, Sinem aut Bas, Hasan aut Susam, Ezgi aut Keklikci, Ali Riza aut Sarac, Elif aut Kocak, Nadir aut Nergiz, Suleyman aut Terzi, Yunus Kasim aut Dincer, Selin Akad aut Baskin, Esra Sidika aut Genc, Gunes Cakmak aut Bahadir, Oguzhan aut Sanri, Aslihan aut Yigit, Serbulent aut Tozkir, Hilmi aut Yalcintepe, Sinem aut Ozkayin, Nese aut Kiraz, Aslihan aut Balta, Burhan aut Gonen, Gizem Akinci aut Kurt, E. Emre aut Ceylan, Gulay Gulec aut Ceylan, Ahmet Cevdet aut Erten, Sukran aut Bozdogan, Sevcan Tug aut Boga, Ibrahim aut Yilmaz, Mustafa aut Silan, Fatma aut Kocabey, Mehmet aut Koc, Altug aut Cankaya, Tufan aut Bora, Elcin aut Bozkaya, Ozlem Giray aut Ercal, Derya aut Ergun, Mehmet Ali aut Ergun, Sezen Guntekin aut Duman, Yesim Sidar aut Beyazit, Serife Busra aut Uzel, Veysiye Hulya aut Em, Serda aut Cevik, Muhammer Ozgur aut Eroz, Recep aut Demirtas, Mercan aut Firat, Cem Koray aut Kabayegit, Zehra Manav aut Altan, Mustafa aut Mardan, Lamiya aut Sayar, Ceyhan aut Tumer, Sait aut Turkgenc, Burcu aut Karakoyun, Hilal Keskin aut Tunc, Betul aut Kuru, Seda aut Zamani, Aysegul aut Geckinli, Bilgen Bilge aut Ates, Esra Arslan aut Clark, Ozden Altiok aut Toylu, Asli aut Coskun, Mert aut Nur, Banu aut Bilge, Ilmay aut Bayramicli, Oya Uygur aut Emmungil, Hakan aut Komesli, Zeynep aut Zeybel, Mujdat aut Gurakan, Figen aut Tasdemir, Mehmet aut Kebudi, Rejin aut Karabulut, Halil Gurhan aut Tuncali, Timur aut Kutlay, Nuket Yurur aut Kahraman, Cigdem Yuce aut Onder, Nerin Bahceciler aut Beyitler, Ilke aut Kavukcu, Salih aut Tulay, Pinar aut Tosun, Ozgur aut Tuncel, Gulten aut Mocan, Gamze aut Kale, Hamdi aut Uyguner, Zehra Oya aut Acar, Aynur aut Altinay, Mert aut Erdem, Levent aut Enthalten in Functional & integrative genomics Berlin : Springer, 2000 22(2022), 3 vom: 31. Jan., Seite 291-315 (DE-627)312404492 (DE-600)2010402-9 1438-7948 nnns volume:22 year:2022 number:3 day:31 month:01 pages:291-315 https://dx.doi.org/10.1007/s10142-021-00819-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_211 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 22 2022 3 31 01 291-315 |
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English |
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Enthalten in Functional & integrative genomics 22(2022), 3 vom: 31. Jan., Seite 291-315 volume:22 year:2022 number:3 day:31 month:01 pages:291-315 |
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Enthalten in Functional & integrative genomics 22(2022), 3 vom: 31. Jan., Seite 291-315 volume:22 year:2022 number:3 day:31 month:01 pages:291-315 |
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Familial Mediterranean fever Genotype-phenotype correlations National Genetics Consortium |
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Functional & integrative genomics |
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Dundar, Munis @@aut@@ Fahrioglu, Umut @@aut@@ Yildiz, Saliha Handan @@aut@@ Bakir-Gungor, Burcu @@aut@@ Temel, Sehime Gulsun @@aut@@ Akin, Haluk @@aut@@ Artan, Sevilhan @@aut@@ Cora, Tulin @@aut@@ Sahin, Feride Iffet @@aut@@ Dursun, Ahmet @@aut@@ Sezer, Ozlem @@aut@@ Gurkan, Hakan @@aut@@ Erdogan, Murat @@aut@@ Gunduz, C. Nur Semerci @@aut@@ Bisgin, Atil @@aut@@ Ozdemir, Ozturk @@aut@@ Ulgenalp, Ayfer @@aut@@ Percin, E. Ferda @@aut@@ Yildirim, Malik Ejder @@aut@@ Tekes, Selahaddin @@aut@@ Bagis, Haydar @@aut@@ Yuce, Huseyin @@aut@@ Duman, Nilgun @@aut@@ Bozkurt, Gokay @@aut@@ Yararbas, Kanay @@aut@@ Yildirim, Mahmut Selman @@aut@@ Arman, Ahmet @@aut@@ Mihci, Ercan @@aut@@ Eraslan, Serpil @@aut@@ Altintas, Zuhal Mert @@aut@@ Aymelek, Huri Sema @@aut@@ Ruhi, Hatice Ilgin @@aut@@ Tatar, Abdulgani @@aut@@ Ergoren, Mahmut Cerkez @@aut@@ Cetin, G. Ozan @@aut@@ Altunoglu, Umut @@aut@@ Caglayan, Ahmet Okay @@aut@@ Yuksel, Berrin @@aut@@ Ozkul, Yusuf @@aut@@ Saatci, Cetin @@aut@@ Kenanoglu, Sercan @@aut@@ Karasu, Nilgun @@aut@@ Dundar, Bilge @@aut@@ Ozcelik, Firat @@aut@@ Demir, Mikail @@aut@@ Siniksaran, Betul Seyhan @@aut@@ Kulak, Hande @@aut@@ Kiranatlioglu, Kubra @@aut@@ Baysal, Kubra @@aut@@ Kazimli, Ulviyya @@aut@@ Akalin, Hilal @@aut@@ Dundar, Ayca @@aut@@ Boz, Mehmet @@aut@@ Bayram, Arslan @@aut@@ Subasioglu, Asli @@aut@@ Colak, Fatma Kurt @@aut@@ Karaduman, Neslihan @@aut@@ Gunes, Meltem Cerrah @@aut@@ Kandemir, Nefise @@aut@@ Aynekin, Busra @@aut@@ Emekli, Rabia @@aut@@ Sahin, Izem Olcay @@aut@@ Ozdemir, Sevda Yesim @@aut@@ Onal, Muge Gulcihan @@aut@@ Senel, Abdurrahman Soner @@aut@@ Poyrazoglu, Muammer Hakan @@aut@@ Kisaarslan, Ayse Nur Pac @@aut@@ Gursoy, Sebnem @@aut@@ Baskol, Mevlut @@aut@@ Calis, Mustafa @@aut@@ Demir, Huseyin @@aut@@ Zararsiz, Gozde Erturk @@aut@@ Erdogan, Mujgan Ozdemir @@aut@@ Elmas, Muhsin @@aut@@ Solak, Mustafa @@aut@@ Ulu, Memnune Sena @@aut@@ Thahir, Adam @@aut@@ Aydin, Zafer @@aut@@ Atasever, Umut @@aut@@ Sag, Sebnem Ozemri @@aut@@ Aliyeva, Lamiya @@aut@@ Alemdar, Adem @@aut@@ Dogan, Berkcan @@aut@@ Erguzeloglu, Cemre Ornek @@aut@@ Kaya, Niyazi @@aut@@ Ozkinay, Ferda @@aut@@ Cogulu, Ozgur @@aut@@ Durmaz, Asude @@aut@@ Onay, Huseyin @@aut@@ Karaca, Emin @@aut@@ Durmaz, Burak @@aut@@ Aykut, Ayca @@aut@@ Cilingir, Oguz @@aut@@ Aras, Beyhan Durak @@aut@@ Gokalp, Ebru Erzurumluoglu @@aut@@ Arslan, Serap @@aut@@ Temena, Arda @@aut@@ Haziyeva, Konul @@aut@@ Kocagil, Sinem @@aut@@ Bas, Hasan @@aut@@ Susam, Ezgi @@aut@@ Keklikci, Ali Riza @@aut@@ Sarac, Elif @@aut@@ Kocak, Nadir @@aut@@ Nergiz, Suleyman @@aut@@ Terzi, Yunus Kasim @@aut@@ Dincer, Selin Akad @@aut@@ Baskin, Esra Sidika @@aut@@ Genc, Gunes Cakmak @@aut@@ Bahadir, Oguzhan @@aut@@ Sanri, Aslihan @@aut@@ Yigit, Serbulent @@aut@@ Tozkir, Hilmi @@aut@@ Yalcintepe, Sinem @@aut@@ Ozkayin, Nese @@aut@@ Kiraz, Aslihan @@aut@@ Balta, Burhan @@aut@@ Gonen, Gizem Akinci @@aut@@ Kurt, E. Emre @@aut@@ Ceylan, Gulay Gulec @@aut@@ Ceylan, Ahmet Cevdet @@aut@@ Erten, Sukran @@aut@@ Bozdogan, Sevcan Tug @@aut@@ Boga, Ibrahim @@aut@@ Yilmaz, Mustafa @@aut@@ Silan, Fatma @@aut@@ Kocabey, Mehmet @@aut@@ Koc, Altug @@aut@@ Cankaya, Tufan @@aut@@ Bora, Elcin @@aut@@ Bozkaya, Ozlem Giray @@aut@@ Ercal, Derya @@aut@@ Ergun, Mehmet Ali @@aut@@ Ergun, Sezen Guntekin @@aut@@ Duman, Yesim Sidar @@aut@@ Beyazit, Serife Busra @@aut@@ Uzel, Veysiye Hulya @@aut@@ Em, Serda @@aut@@ Cevik, Muhammer Ozgur @@aut@@ Eroz, Recep @@aut@@ Demirtas, Mercan @@aut@@ Firat, Cem Koray @@aut@@ Kabayegit, Zehra Manav @@aut@@ Altan, Mustafa @@aut@@ Mardan, Lamiya @@aut@@ Sayar, Ceyhan @@aut@@ Tumer, Sait @@aut@@ Turkgenc, Burcu @@aut@@ Karakoyun, Hilal Keskin @@aut@@ Tunc, Betul @@aut@@ Kuru, Seda @@aut@@ Zamani, Aysegul @@aut@@ Geckinli, Bilgen Bilge @@aut@@ Ates, Esra Arslan @@aut@@ Clark, Ozden Altiok @@aut@@ Toylu, Asli @@aut@@ Coskun, Mert @@aut@@ Nur, Banu @@aut@@ Bilge, Ilmay @@aut@@ Bayramicli, Oya Uygur @@aut@@ Emmungil, Hakan @@aut@@ Komesli, Zeynep @@aut@@ Zeybel, Mujdat @@aut@@ Gurakan, Figen @@aut@@ Tasdemir, Mehmet @@aut@@ Kebudi, Rejin @@aut@@ Karabulut, Halil Gurhan @@aut@@ Tuncali, Timur @@aut@@ Kutlay, Nuket Yurur @@aut@@ Kahraman, Cigdem Yuce @@aut@@ Onder, Nerin Bahceciler @@aut@@ Beyitler, Ilke @@aut@@ Kavukcu, Salih @@aut@@ Tulay, Pinar @@aut@@ Tosun, Ozgur @@aut@@ Tuncel, Gulten @@aut@@ Mocan, Gamze @@aut@@ Kale, Hamdi @@aut@@ Uyguner, Zehra Oya @@aut@@ Acar, Aynur @@aut@@ Altinay, Mert @@aut@@ Erdem, Levent @@aut@@ |
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2022-01-31T00:00:00Z |
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312404492 |
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englisch |
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Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. 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Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium Familial Mediterranean fever (dpeaa)DE-He213 Genotype-phenotype correlations (dpeaa)DE-He213 National Genetics Consortium (dpeaa)DE-He213 |
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Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium |
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Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium |
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Dundar, Munis Fahrioglu, Umut Yildiz, Saliha Handan Bakir-Gungor, Burcu Temel, Sehime Gulsun Akin, Haluk Artan, Sevilhan Cora, Tulin Sahin, Feride Iffet Dursun, Ahmet Sezer, Ozlem Gurkan, Hakan Erdogan, Murat Gunduz, C. Nur Semerci Bisgin, Atil Ozdemir, Ozturk Ulgenalp, Ayfer Percin, E. Ferda Yildirim, Malik Ejder Tekes, Selahaddin Bagis, Haydar Yuce, Huseyin Duman, Nilgun Bozkurt, Gokay Yararbas, Kanay Yildirim, Mahmut Selman Arman, Ahmet Mihci, Ercan Eraslan, Serpil Altintas, Zuhal Mert Aymelek, Huri Sema Ruhi, Hatice Ilgin Tatar, Abdulgani Ergoren, Mahmut Cerkez Cetin, G. Ozan Altunoglu, Umut Caglayan, Ahmet Okay Yuksel, Berrin Ozkul, Yusuf Saatci, Cetin Kenanoglu, Sercan Karasu, Nilgun Dundar, Bilge Ozcelik, Firat Demir, Mikail Siniksaran, Betul Seyhan Kulak, Hande Kiranatlioglu, Kubra Baysal, Kubra Kazimli, Ulviyya Akalin, Hilal Dundar, Ayca Boz, Mehmet Bayram, Arslan Subasioglu, Asli Colak, Fatma Kurt Karaduman, Neslihan Gunes, Meltem Cerrah Kandemir, Nefise Aynekin, Busra Emekli, Rabia Sahin, Izem Olcay Ozdemir, Sevda Yesim Onal, Muge Gulcihan Senel, Abdurrahman Soner Poyrazoglu, Muammer Hakan Kisaarslan, Ayse Nur Pac Gursoy, Sebnem Baskol, Mevlut Calis, Mustafa Demir, Huseyin Zararsiz, Gozde Erturk Erdogan, Mujgan Ozdemir Elmas, Muhsin Solak, Mustafa Ulu, Memnune Sena Thahir, Adam Aydin, Zafer Atasever, Umut Sag, Sebnem Ozemri Aliyeva, Lamiya Alemdar, Adem Dogan, Berkcan Erguzeloglu, Cemre Ornek Kaya, Niyazi Ozkinay, Ferda Cogulu, Ozgur Durmaz, Asude Onay, Huseyin Karaca, Emin Durmaz, Burak Aykut, Ayca Cilingir, Oguz Aras, Beyhan Durak Gokalp, Ebru Erzurumluoglu Arslan, Serap Temena, Arda Haziyeva, Konul Kocagil, Sinem Bas, Hasan Susam, Ezgi Keklikci, Ali Riza Sarac, Elif Kocak, Nadir Nergiz, Suleyman Terzi, Yunus Kasim Dincer, Selin Akad Baskin, Esra Sidika Genc, Gunes Cakmak Bahadir, Oguzhan Sanri, Aslihan Yigit, Serbulent Tozkir, Hilmi Yalcintepe, Sinem Ozkayin, Nese Kiraz, Aslihan Balta, Burhan Gonen, Gizem Akinci Kurt, E. Emre Ceylan, Gulay Gulec Ceylan, Ahmet Cevdet Erten, Sukran Bozdogan, Sevcan Tug Boga, Ibrahim Yilmaz, Mustafa Silan, Fatma Kocabey, Mehmet Koc, Altug Cankaya, Tufan Bora, Elcin Bozkaya, Ozlem Giray Ercal, Derya Ergun, Mehmet Ali Ergun, Sezen Guntekin Duman, Yesim Sidar Beyazit, Serife Busra Uzel, Veysiye Hulya Em, Serda Cevik, Muhammer Ozgur Eroz, Recep Demirtas, Mercan Firat, Cem Koray Kabayegit, Zehra Manav Altan, Mustafa Mardan, Lamiya Sayar, Ceyhan Tumer, Sait Turkgenc, Burcu Karakoyun, Hilal Keskin Tunc, Betul Kuru, Seda Zamani, Aysegul Geckinli, Bilgen Bilge Ates, Esra Arslan Clark, Ozden Altiok Toylu, Asli Coskun, Mert Nur, Banu Bilge, Ilmay Bayramicli, Oya Uygur Emmungil, Hakan Komesli, Zeynep Zeybel, Mujdat Gurakan, Figen Tasdemir, Mehmet Kebudi, Rejin Karabulut, Halil Gurhan Tuncali, Timur Kutlay, Nuket Yurur Kahraman, Cigdem Yuce Onder, Nerin Bahceciler Beyitler, Ilke Kavukcu, Salih Tulay, Pinar Tosun, Ozgur Tuncel, Gulten Mocan, Gamze Kale, Hamdi Uyguner, Zehra Oya Acar, Aynur Altinay, Mert Erdem, Levent |
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clinical and molecular evaluation of mefv gene variants in the turkish population: a study by the national genetics consortium |
title_auth |
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium |
abstract |
Abstract Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease. © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2021 |
abstractGer |
Abstract Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease. © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2021 |
abstract_unstemmed |
Abstract Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease. © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2021 |
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Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium |
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Fahrioglu, Umut Yildiz, Saliha Handan Bakir-Gungor, Burcu Temel, Sehime Gulsun Akin, Haluk Artan, Sevilhan Cora, Tulin Sahin, Feride Iffet Dursun, Ahmet Sezer, Ozlem Gurkan, Hakan Erdogan, Murat Gunduz, C. Nur Semerci Bisgin, Atil Ozdemir, Ozturk Ulgenalp, Ayfer Percin, E. Ferda Yildirim, Malik Ejder Tekes, Selahaddin Bagis, Haydar Yuce, Huseyin Duman, Nilgun Bozkurt, Gokay Yararbas, Kanay Yildirim, Mahmut Selman Arman, Ahmet Mihci, Ercan Eraslan, Serpil Altintas, Zuhal Mert Aymelek, Huri Sema Ruhi, Hatice Ilgin Tatar, Abdulgani Ergoren, Mahmut Cerkez Cetin, G. Ozan Altunoglu, Umut Caglayan, Ahmet Okay Yuksel, Berrin Ozkul, Yusuf Saatci, Cetin Kenanoglu, Sercan Karasu, Nilgun Dundar, Bilge Ozcelik, Firat Demir, Mikail Siniksaran, Betul Seyhan Kulak, Hande Kiranatlioglu, Kubra Baysal, Kubra Kazimli, Ulviyya Akalin, Hilal Dundar, Ayca Boz, Mehmet Bayram, Arslan Subasioglu, Asli Colak, Fatma Kurt Karaduman, Neslihan Gunes, Meltem Cerrah Kandemir, Nefise Aynekin, Busra Emekli, Rabia Sahin, Izem Olcay Ozdemir, Sevda Yesim Onal, Muge Gulcihan Senel, Abdurrahman Soner Poyrazoglu, Muammer Hakan Kisaarslan, Ayse Nur Pac Gursoy, Sebnem Baskol, Mevlut Calis, Mustafa Demir, Huseyin Zararsiz, Gozde Erturk Erdogan, Mujgan Ozdemir Elmas, Muhsin Solak, Mustafa Ulu, Memnune Sena Thahir, Adam Aydin, Zafer Atasever, Umut Sag, Sebnem Ozemri Aliyeva, Lamiya Alemdar, Adem Dogan, Berkcan Erguzeloglu, Cemre Ornek Kaya, Niyazi Ozkinay, Ferda Cogulu, Ozgur Durmaz, Asude Onay, Huseyin Karaca, Emin Durmaz, Burak Aykut, Ayca Cilingir, Oguz Aras, Beyhan Durak Gokalp, Ebru Erzurumluoglu Arslan, Serap Temena, Arda Haziyeva, Konul Kocagil, Sinem Bas, Hasan Susam, Ezgi Keklikci, Ali Riza Sarac, Elif Kocak, Nadir Nergiz, Suleyman Terzi, Yunus Kasim Dincer, Selin Akad Baskin, Esra Sidika Genc, Gunes Cakmak Bahadir, Oguzhan Sanri, Aslihan Yigit, Serbulent Tozkir, Hilmi Yalcintepe, Sinem Ozkayin, Nese Kiraz, Aslihan Balta, Burhan Gonen, Gizem Akinci Kurt, E. Emre Ceylan, Gulay Gulec Ceylan, Ahmet Cevdet Erten, Sukran Bozdogan, Sevcan Tug Boga, Ibrahim Yilmaz, Mustafa Silan, Fatma Kocabey, Mehmet Koc, Altug Cankaya, Tufan Bora, Elcin Bozkaya, Ozlem Giray Ercal, Derya Ergun, Mehmet Ali Ergun, Sezen Guntekin Duman, Yesim Sidar Beyazit, Serife Busra Uzel, Veysiye Hulya Em, Serda Cevik, Muhammer Ozgur Eroz, Recep Demirtas, Mercan Firat, Cem Koray Kabayegit, Zehra Manav Altan, Mustafa Mardan, Lamiya Sayar, Ceyhan Tumer, Sait Turkgenc, Burcu Karakoyun, Hilal Keskin Tunc, Betul Kuru, Seda Zamani, Aysegul Geckinli, Bilgen Bilge Ates, Esra Arslan Clark, Ozden Altiok Toylu, Asli Coskun, Mert Nur, Banu Bilge, Ilmay Bayramicli, Oya Uygur Emmungil, Hakan Komesli, Zeynep Zeybel, Mujdat Gurakan, Figen Tasdemir, Mehmet Kebudi, Rejin Karabulut, Halil Gurhan Tuncali, Timur Kutlay, Nuket Yurur Kahraman, Cigdem Yuce Onder, Nerin Bahceciler Beyitler, Ilke Kavukcu, Salih Tulay, Pinar Tosun, Ozgur Tuncel, Gulten Mocan, Gamze Kale, Hamdi Uyguner, Zehra Oya Acar, Aynur Altinay, Mert Erdem, Levent |
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Fahrioglu, Umut Yildiz, Saliha Handan Bakir-Gungor, Burcu Temel, Sehime Gulsun Akin, Haluk Artan, Sevilhan Cora, Tulin Sahin, Feride Iffet Dursun, Ahmet Sezer, Ozlem Gurkan, Hakan Erdogan, Murat Gunduz, C. Nur Semerci Bisgin, Atil Ozdemir, Ozturk Ulgenalp, Ayfer Percin, E. Ferda Yildirim, Malik Ejder Tekes, Selahaddin Bagis, Haydar Yuce, Huseyin Duman, Nilgun Bozkurt, Gokay Yararbas, Kanay Yildirim, Mahmut Selman Arman, Ahmet Mihci, Ercan Eraslan, Serpil Altintas, Zuhal Mert Aymelek, Huri Sema Ruhi, Hatice Ilgin Tatar, Abdulgani Ergoren, Mahmut Cerkez Cetin, G. Ozan Altunoglu, Umut Caglayan, Ahmet Okay Yuksel, Berrin Ozkul, Yusuf Saatci, Cetin Kenanoglu, Sercan Karasu, Nilgun Dundar, Bilge Ozcelik, Firat Demir, Mikail Siniksaran, Betul Seyhan Kulak, Hande Kiranatlioglu, Kubra Baysal, Kubra Kazimli, Ulviyya Akalin, Hilal Dundar, Ayca Boz, Mehmet Bayram, Arslan Subasioglu, Asli Colak, Fatma Kurt Karaduman, Neslihan Gunes, Meltem Cerrah Kandemir, Nefise Aynekin, Busra Emekli, Rabia Sahin, Izem Olcay Ozdemir, Sevda Yesim Onal, Muge Gulcihan Senel, Abdurrahman Soner Poyrazoglu, Muammer Hakan Kisaarslan, Ayse Nur Pac Gursoy, Sebnem Baskol, Mevlut Calis, Mustafa Demir, Huseyin Zararsiz, Gozde Erturk Erdogan, Mujgan Ozdemir Elmas, Muhsin Solak, Mustafa Ulu, Memnune Sena Thahir, Adam Aydin, Zafer Atasever, Umut Sag, Sebnem Ozemri Aliyeva, Lamiya Alemdar, Adem Dogan, Berkcan Erguzeloglu, Cemre Ornek Kaya, Niyazi Ozkinay, Ferda Cogulu, Ozgur Durmaz, Asude Onay, Huseyin Karaca, Emin Durmaz, Burak Aykut, Ayca Cilingir, Oguz Aras, Beyhan Durak Gokalp, Ebru Erzurumluoglu Arslan, Serap Temena, Arda Haziyeva, Konul Kocagil, Sinem Bas, Hasan Susam, Ezgi Keklikci, Ali Riza Sarac, Elif Kocak, Nadir Nergiz, Suleyman Terzi, Yunus Kasim Dincer, Selin Akad Baskin, Esra Sidika Genc, Gunes Cakmak Bahadir, Oguzhan Sanri, Aslihan Yigit, Serbulent Tozkir, Hilmi Yalcintepe, Sinem Ozkayin, Nese Kiraz, Aslihan Balta, Burhan Gonen, Gizem Akinci Kurt, E. Emre Ceylan, Gulay Gulec Ceylan, Ahmet Cevdet Erten, Sukran Bozdogan, Sevcan Tug Boga, Ibrahim Yilmaz, Mustafa Silan, Fatma Kocabey, Mehmet Koc, Altug Cankaya, Tufan Bora, Elcin Bozkaya, Ozlem Giray Ercal, Derya Ergun, Mehmet Ali Ergun, Sezen Guntekin Duman, Yesim Sidar Beyazit, Serife Busra Uzel, Veysiye Hulya Em, Serda Cevik, Muhammer Ozgur Eroz, Recep Demirtas, Mercan Firat, Cem Koray Kabayegit, Zehra Manav Altan, Mustafa Mardan, Lamiya Sayar, Ceyhan Tumer, Sait Turkgenc, Burcu Karakoyun, Hilal Keskin Tunc, Betul Kuru, Seda Zamani, Aysegul Geckinli, Bilgen Bilge Ates, Esra Arslan Clark, Ozden Altiok Toylu, Asli Coskun, Mert Nur, Banu Bilge, Ilmay Bayramicli, Oya Uygur Emmungil, Hakan Komesli, Zeynep Zeybel, Mujdat Gurakan, Figen Tasdemir, Mehmet Kebudi, Rejin Karabulut, Halil Gurhan Tuncali, Timur Kutlay, Nuket Yurur Kahraman, Cigdem Yuce Onder, Nerin Bahceciler Beyitler, Ilke Kavukcu, Salih Tulay, Pinar Tosun, Ozgur Tuncel, Gulten Mocan, Gamze Kale, Hamdi Uyguner, Zehra Oya Acar, Aynur Altinay, Mert Erdem, Levent |
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score |
7.3993664 |