A mutation screen in patients with Kabuki syndrome
Abstract Kabuki syndrome (KS) is one of the classical, clinically well-known multiple anomalies/mental retardation syndromes, mainly characterized by a very distinctive facial appearance in combination with additional clinical signs such as developmental delay, short stature, persistent fingerpads,...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Li, Yun [verfasserIn] Bögershausen, Nina [verfasserIn] Alanay, Yasemin [verfasserIn] Simsek Kiper, Pelin Özlem [verfasserIn] Plume, Nadine [verfasserIn] Keupp, Katharina [verfasserIn] Pohl, Esther [verfasserIn] Pawlik, Barbara [verfasserIn] Rachwalski, Martin [verfasserIn] Milz, Esther [verfasserIn] Thoenes, Michaela [verfasserIn] Albrecht, Beate [verfasserIn] Prott, Eva-Christina [verfasserIn] Lehmkühler, Margret [verfasserIn] Demuth, Stephanie [verfasserIn] Utine, Gülen Eda [verfasserIn] Boduroglu, Koray [verfasserIn] Frankenbusch, Katja [verfasserIn] Borck, Guntram [verfasserIn] Gillessen-Kaesbach, Gabriele [verfasserIn] Yigit, Gökhan [verfasserIn] Wieczorek, Dagmar [verfasserIn] Wollnik, Bernd [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2011 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Human genetics |
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| Übergeordnetes Werk: |
volume:130 ; year:2011 ; number:6 ; day:24 ; month:05 ; pages:715-724 |
| Links: |
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| DOI / URN: |
10.1007/s00439-011-1004-y |
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| Katalog-ID: |
SPR006351174 |
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| 100 | 1 | |a Li, Yun |e verfasserin |4 aut | |
| 245 | 1 | 2 | |a A mutation screen in patients with Kabuki syndrome |
| 264 | 1 | |c 2011 | |
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| 520 | |a Abstract Kabuki syndrome (KS) is one of the classical, clinically well-known multiple anomalies/mental retardation syndromes, mainly characterized by a very distinctive facial appearance in combination with additional clinical signs such as developmental delay, short stature, persistent fingerpads, and urogenital tract anomalies. In our study, we sequenced all 54 coding exons of the recently identified MLL2 gene in 34 patients with Kabuki syndrome. We identified 18 distinct mutations in 19 patients, 11 of 12 tested de novo. Mutations were located all over the gene and included three nonsense mutations, two splice-site mutations, six small deletions or insertions, and seven missense mutations. We compared frequencies of clinical symptoms in MLL2 mutation carriers versus non-carriers. MLL2 mutation carriers significantly more often presented with short stature and renal anomalies (p = 0.026 and 0.031, respectively), and in addition, MLL2 carriers obviously showed more frequently a typical facial gestalt (17/19) compared with non-carriers (9/15), although this result was not statistically significant (p = 0.1). Mutation-negative patients were subsequently tested for mutations in ten functional candidate genes (e.g. MLL, ASC2, ASH2L, and WDR5), but no convincing causative mutations could be found. Our results indicate that MLL2 is the major gene for Kabuki syndrome with a wide spectrum of de novo mutations and strongly suggest further genetic heterogeneity. | ||
| 650 | 4 | |a Missense Mutation |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Missense Variant |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Palpebral Fissure |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Renal Anomaly |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Causative Nature |7 (dpeaa)DE-He213 | |
| 700 | 1 | |a Bögershausen, Nina |e verfasserin |4 aut | |
| 700 | 1 | |a Alanay, Yasemin |e verfasserin |4 aut | |
| 700 | 1 | |a Simsek Kiper, Pelin Özlem |e verfasserin |4 aut | |
| 700 | 1 | |a Plume, Nadine |e verfasserin |4 aut | |
| 700 | 1 | |a Keupp, Katharina |e verfasserin |4 aut | |
| 700 | 1 | |a Pohl, Esther |e verfasserin |4 aut | |
| 700 | 1 | |a Pawlik, Barbara |e verfasserin |4 aut | |
| 700 | 1 | |a Rachwalski, Martin |e verfasserin |4 aut | |
| 700 | 1 | |a Milz, Esther |e verfasserin |4 aut | |
| 700 | 1 | |a Thoenes, Michaela |e verfasserin |4 aut | |
| 700 | 1 | |a Albrecht, Beate |e verfasserin |4 aut | |
| 700 | 1 | |a Prott, Eva-Christina |e verfasserin |4 aut | |
| 700 | 1 | |a Lehmkühler, Margret |e verfasserin |4 aut | |
| 700 | 1 | |a Demuth, Stephanie |e verfasserin |4 aut | |
| 700 | 1 | |a Utine, Gülen Eda |e verfasserin |4 aut | |
| 700 | 1 | |a Boduroglu, Koray |e verfasserin |4 aut | |
| 700 | 1 | |a Frankenbusch, Katja |e verfasserin |4 aut | |
| 700 | 1 | |a Borck, Guntram |e verfasserin |4 aut | |
| 700 | 1 | |a Gillessen-Kaesbach, Gabriele |e verfasserin |4 aut | |
| 700 | 1 | |a Yigit, Gökhan |e verfasserin |4 aut | |
| 700 | 1 | |a Wieczorek, Dagmar |e verfasserin |4 aut | |
| 700 | 1 | |a Wollnik, Bernd |e verfasserin |4 aut | |
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10.1007/s00439-011-1004-y doi (DE-627)SPR006351174 (SPR)s00439-011-1004-y-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Li, Yun verfasserin aut A mutation screen in patients with Kabuki syndrome 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Kabuki syndrome (KS) is one of the classical, clinically well-known multiple anomalies/mental retardation syndromes, mainly characterized by a very distinctive facial appearance in combination with additional clinical signs such as developmental delay, short stature, persistent fingerpads, and urogenital tract anomalies. In our study, we sequenced all 54 coding exons of the recently identified MLL2 gene in 34 patients with Kabuki syndrome. We identified 18 distinct mutations in 19 patients, 11 of 12 tested de novo. Mutations were located all over the gene and included three nonsense mutations, two splice-site mutations, six small deletions or insertions, and seven missense mutations. We compared frequencies of clinical symptoms in MLL2 mutation carriers versus non-carriers. MLL2 mutation carriers significantly more often presented with short stature and renal anomalies (p = 0.026 and 0.031, respectively), and in addition, MLL2 carriers obviously showed more frequently a typical facial gestalt (17/19) compared with non-carriers (9/15), although this result was not statistically significant (p = 0.1). Mutation-negative patients were subsequently tested for mutations in ten functional candidate genes (e.g. MLL, ASC2, ASH2L, and WDR5), but no convincing causative mutations could be found. Our results indicate that MLL2 is the major gene for Kabuki syndrome with a wide spectrum of de novo mutations and strongly suggest further genetic heterogeneity. Missense Mutation (dpeaa)DE-He213 Missense Variant (dpeaa)DE-He213 Palpebral Fissure (dpeaa)DE-He213 Renal Anomaly (dpeaa)DE-He213 Causative Nature (dpeaa)DE-He213 Bögershausen, Nina verfasserin aut Alanay, Yasemin verfasserin aut Simsek Kiper, Pelin Özlem verfasserin aut Plume, Nadine verfasserin aut Keupp, Katharina verfasserin aut Pohl, Esther verfasserin aut Pawlik, Barbara verfasserin aut Rachwalski, Martin verfasserin aut Milz, Esther verfasserin aut Thoenes, Michaela verfasserin aut Albrecht, Beate verfasserin aut Prott, Eva-Christina verfasserin aut Lehmkühler, Margret verfasserin aut Demuth, Stephanie verfasserin aut Utine, Gülen Eda verfasserin aut Boduroglu, Koray verfasserin aut Frankenbusch, Katja verfasserin aut Borck, Guntram verfasserin aut Gillessen-Kaesbach, Gabriele verfasserin aut Yigit, Gökhan verfasserin aut Wieczorek, Dagmar verfasserin aut Wollnik, Bernd verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 130(2011), 6 vom: 24. Mai, Seite 715-724 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:130 year:2011 number:6 day:24 month:05 pages:715-724 https://dx.doi.org/10.1007/s00439-011-1004-y 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_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_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 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_2116 GBV_ILN_2118 GBV_ILN_2119 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_4012 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 44.48 ASE AR 130 2011 6 24 05 715-724 |
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10.1007/s00439-011-1004-y doi (DE-627)SPR006351174 (SPR)s00439-011-1004-y-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Li, Yun verfasserin aut A mutation screen in patients with Kabuki syndrome 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Kabuki syndrome (KS) is one of the classical, clinically well-known multiple anomalies/mental retardation syndromes, mainly characterized by a very distinctive facial appearance in combination with additional clinical signs such as developmental delay, short stature, persistent fingerpads, and urogenital tract anomalies. In our study, we sequenced all 54 coding exons of the recently identified MLL2 gene in 34 patients with Kabuki syndrome. We identified 18 distinct mutations in 19 patients, 11 of 12 tested de novo. Mutations were located all over the gene and included three nonsense mutations, two splice-site mutations, six small deletions or insertions, and seven missense mutations. We compared frequencies of clinical symptoms in MLL2 mutation carriers versus non-carriers. MLL2 mutation carriers significantly more often presented with short stature and renal anomalies (p = 0.026 and 0.031, respectively), and in addition, MLL2 carriers obviously showed more frequently a typical facial gestalt (17/19) compared with non-carriers (9/15), although this result was not statistically significant (p = 0.1). Mutation-negative patients were subsequently tested for mutations in ten functional candidate genes (e.g. MLL, ASC2, ASH2L, and WDR5), but no convincing causative mutations could be found. Our results indicate that MLL2 is the major gene for Kabuki syndrome with a wide spectrum of de novo mutations and strongly suggest further genetic heterogeneity. Missense Mutation (dpeaa)DE-He213 Missense Variant (dpeaa)DE-He213 Palpebral Fissure (dpeaa)DE-He213 Renal Anomaly (dpeaa)DE-He213 Causative Nature (dpeaa)DE-He213 Bögershausen, Nina verfasserin aut Alanay, Yasemin verfasserin aut Simsek Kiper, Pelin Özlem verfasserin aut Plume, Nadine verfasserin aut Keupp, Katharina verfasserin aut Pohl, Esther verfasserin aut Pawlik, Barbara verfasserin aut Rachwalski, Martin verfasserin aut Milz, Esther verfasserin aut Thoenes, Michaela verfasserin aut Albrecht, Beate verfasserin aut Prott, Eva-Christina verfasserin aut Lehmkühler, Margret verfasserin aut Demuth, Stephanie verfasserin aut Utine, Gülen Eda verfasserin aut Boduroglu, Koray verfasserin aut Frankenbusch, Katja verfasserin aut Borck, Guntram verfasserin aut Gillessen-Kaesbach, Gabriele verfasserin aut Yigit, Gökhan verfasserin aut Wieczorek, Dagmar verfasserin aut Wollnik, Bernd verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 130(2011), 6 vom: 24. Mai, Seite 715-724 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:130 year:2011 number:6 day:24 month:05 pages:715-724 https://dx.doi.org/10.1007/s00439-011-1004-y 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_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_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 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_2116 GBV_ILN_2118 GBV_ILN_2119 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_4012 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 44.48 ASE AR 130 2011 6 24 05 715-724 |
| allfields_unstemmed |
10.1007/s00439-011-1004-y doi (DE-627)SPR006351174 (SPR)s00439-011-1004-y-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Li, Yun verfasserin aut A mutation screen in patients with Kabuki syndrome 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Kabuki syndrome (KS) is one of the classical, clinically well-known multiple anomalies/mental retardation syndromes, mainly characterized by a very distinctive facial appearance in combination with additional clinical signs such as developmental delay, short stature, persistent fingerpads, and urogenital tract anomalies. In our study, we sequenced all 54 coding exons of the recently identified MLL2 gene in 34 patients with Kabuki syndrome. We identified 18 distinct mutations in 19 patients, 11 of 12 tested de novo. Mutations were located all over the gene and included three nonsense mutations, two splice-site mutations, six small deletions or insertions, and seven missense mutations. We compared frequencies of clinical symptoms in MLL2 mutation carriers versus non-carriers. MLL2 mutation carriers significantly more often presented with short stature and renal anomalies (p = 0.026 and 0.031, respectively), and in addition, MLL2 carriers obviously showed more frequently a typical facial gestalt (17/19) compared with non-carriers (9/15), although this result was not statistically significant (p = 0.1). Mutation-negative patients were subsequently tested for mutations in ten functional candidate genes (e.g. MLL, ASC2, ASH2L, and WDR5), but no convincing causative mutations could be found. Our results indicate that MLL2 is the major gene for Kabuki syndrome with a wide spectrum of de novo mutations and strongly suggest further genetic heterogeneity. Missense Mutation (dpeaa)DE-He213 Missense Variant (dpeaa)DE-He213 Palpebral Fissure (dpeaa)DE-He213 Renal Anomaly (dpeaa)DE-He213 Causative Nature (dpeaa)DE-He213 Bögershausen, Nina verfasserin aut Alanay, Yasemin verfasserin aut Simsek Kiper, Pelin Özlem verfasserin aut Plume, Nadine verfasserin aut Keupp, Katharina verfasserin aut Pohl, Esther verfasserin aut Pawlik, Barbara verfasserin aut Rachwalski, Martin verfasserin aut Milz, Esther verfasserin aut Thoenes, Michaela verfasserin aut Albrecht, Beate verfasserin aut Prott, Eva-Christina verfasserin aut Lehmkühler, Margret verfasserin aut Demuth, Stephanie verfasserin aut Utine, Gülen Eda verfasserin aut Boduroglu, Koray verfasserin aut Frankenbusch, Katja verfasserin aut Borck, Guntram verfasserin aut Gillessen-Kaesbach, Gabriele verfasserin aut Yigit, Gökhan verfasserin aut Wieczorek, Dagmar verfasserin aut Wollnik, Bernd verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 130(2011), 6 vom: 24. Mai, Seite 715-724 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:130 year:2011 number:6 day:24 month:05 pages:715-724 https://dx.doi.org/10.1007/s00439-011-1004-y 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_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_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 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_2116 GBV_ILN_2118 GBV_ILN_2119 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_4012 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 44.48 ASE AR 130 2011 6 24 05 715-724 |
| allfieldsGer |
10.1007/s00439-011-1004-y doi (DE-627)SPR006351174 (SPR)s00439-011-1004-y-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Li, Yun verfasserin aut A mutation screen in patients with Kabuki syndrome 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Kabuki syndrome (KS) is one of the classical, clinically well-known multiple anomalies/mental retardation syndromes, mainly characterized by a very distinctive facial appearance in combination with additional clinical signs such as developmental delay, short stature, persistent fingerpads, and urogenital tract anomalies. In our study, we sequenced all 54 coding exons of the recently identified MLL2 gene in 34 patients with Kabuki syndrome. We identified 18 distinct mutations in 19 patients, 11 of 12 tested de novo. Mutations were located all over the gene and included three nonsense mutations, two splice-site mutations, six small deletions or insertions, and seven missense mutations. We compared frequencies of clinical symptoms in MLL2 mutation carriers versus non-carriers. MLL2 mutation carriers significantly more often presented with short stature and renal anomalies (p = 0.026 and 0.031, respectively), and in addition, MLL2 carriers obviously showed more frequently a typical facial gestalt (17/19) compared with non-carriers (9/15), although this result was not statistically significant (p = 0.1). Mutation-negative patients were subsequently tested for mutations in ten functional candidate genes (e.g. MLL, ASC2, ASH2L, and WDR5), but no convincing causative mutations could be found. Our results indicate that MLL2 is the major gene for Kabuki syndrome with a wide spectrum of de novo mutations and strongly suggest further genetic heterogeneity. Missense Mutation (dpeaa)DE-He213 Missense Variant (dpeaa)DE-He213 Palpebral Fissure (dpeaa)DE-He213 Renal Anomaly (dpeaa)DE-He213 Causative Nature (dpeaa)DE-He213 Bögershausen, Nina verfasserin aut Alanay, Yasemin verfasserin aut Simsek Kiper, Pelin Özlem verfasserin aut Plume, Nadine verfasserin aut Keupp, Katharina verfasserin aut Pohl, Esther verfasserin aut Pawlik, Barbara verfasserin aut Rachwalski, Martin verfasserin aut Milz, Esther verfasserin aut Thoenes, Michaela verfasserin aut Albrecht, Beate verfasserin aut Prott, Eva-Christina verfasserin aut Lehmkühler, Margret verfasserin aut Demuth, Stephanie verfasserin aut Utine, Gülen Eda verfasserin aut Boduroglu, Koray verfasserin aut Frankenbusch, Katja verfasserin aut Borck, Guntram verfasserin aut Gillessen-Kaesbach, Gabriele verfasserin aut Yigit, Gökhan verfasserin aut Wieczorek, Dagmar verfasserin aut Wollnik, Bernd verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 130(2011), 6 vom: 24. Mai, Seite 715-724 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:130 year:2011 number:6 day:24 month:05 pages:715-724 https://dx.doi.org/10.1007/s00439-011-1004-y 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_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_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 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_2116 GBV_ILN_2118 GBV_ILN_2119 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_4012 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 44.48 ASE AR 130 2011 6 24 05 715-724 |
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10.1007/s00439-011-1004-y doi (DE-627)SPR006351174 (SPR)s00439-011-1004-y-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Li, Yun verfasserin aut A mutation screen in patients with Kabuki syndrome 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Kabuki syndrome (KS) is one of the classical, clinically well-known multiple anomalies/mental retardation syndromes, mainly characterized by a very distinctive facial appearance in combination with additional clinical signs such as developmental delay, short stature, persistent fingerpads, and urogenital tract anomalies. In our study, we sequenced all 54 coding exons of the recently identified MLL2 gene in 34 patients with Kabuki syndrome. We identified 18 distinct mutations in 19 patients, 11 of 12 tested de novo. Mutations were located all over the gene and included three nonsense mutations, two splice-site mutations, six small deletions or insertions, and seven missense mutations. We compared frequencies of clinical symptoms in MLL2 mutation carriers versus non-carriers. MLL2 mutation carriers significantly more often presented with short stature and renal anomalies (p = 0.026 and 0.031, respectively), and in addition, MLL2 carriers obviously showed more frequently a typical facial gestalt (17/19) compared with non-carriers (9/15), although this result was not statistically significant (p = 0.1). Mutation-negative patients were subsequently tested for mutations in ten functional candidate genes (e.g. MLL, ASC2, ASH2L, and WDR5), but no convincing causative mutations could be found. Our results indicate that MLL2 is the major gene for Kabuki syndrome with a wide spectrum of de novo mutations and strongly suggest further genetic heterogeneity. Missense Mutation (dpeaa)DE-He213 Missense Variant (dpeaa)DE-He213 Palpebral Fissure (dpeaa)DE-He213 Renal Anomaly (dpeaa)DE-He213 Causative Nature (dpeaa)DE-He213 Bögershausen, Nina verfasserin aut Alanay, Yasemin verfasserin aut Simsek Kiper, Pelin Özlem verfasserin aut Plume, Nadine verfasserin aut Keupp, Katharina verfasserin aut Pohl, Esther verfasserin aut Pawlik, Barbara verfasserin aut Rachwalski, Martin verfasserin aut Milz, Esther verfasserin aut Thoenes, Michaela verfasserin aut Albrecht, Beate verfasserin aut Prott, Eva-Christina verfasserin aut Lehmkühler, Margret verfasserin aut Demuth, Stephanie verfasserin aut Utine, Gülen Eda verfasserin aut Boduroglu, Koray verfasserin aut Frankenbusch, Katja verfasserin aut Borck, Guntram verfasserin aut Gillessen-Kaesbach, Gabriele verfasserin aut Yigit, Gökhan verfasserin aut Wieczorek, Dagmar verfasserin aut Wollnik, Bernd verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 130(2011), 6 vom: 24. Mai, Seite 715-724 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:130 year:2011 number:6 day:24 month:05 pages:715-724 https://dx.doi.org/10.1007/s00439-011-1004-y 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_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_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 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_2116 GBV_ILN_2118 GBV_ILN_2119 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_4012 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 44.48 ASE AR 130 2011 6 24 05 715-724 |
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Enthalten in Human genetics <Berlin> 130(2011), 6 vom: 24. Mai, Seite 715-724 volume:130 year:2011 number:6 day:24 month:05 pages:715-724 |
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Missense Mutation Missense Variant Palpebral Fissure Renal Anomaly Causative Nature |
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Li, Yun @@aut@@ Bögershausen, Nina @@aut@@ Alanay, Yasemin @@aut@@ Simsek Kiper, Pelin Özlem @@aut@@ Plume, Nadine @@aut@@ Keupp, Katharina @@aut@@ Pohl, Esther @@aut@@ Pawlik, Barbara @@aut@@ Rachwalski, Martin @@aut@@ Milz, Esther @@aut@@ Thoenes, Michaela @@aut@@ Albrecht, Beate @@aut@@ Prott, Eva-Christina @@aut@@ Lehmkühler, Margret @@aut@@ Demuth, Stephanie @@aut@@ Utine, Gülen Eda @@aut@@ Boduroglu, Koray @@aut@@ Frankenbusch, Katja @@aut@@ Borck, Guntram @@aut@@ Gillessen-Kaesbach, Gabriele @@aut@@ Yigit, Gökhan @@aut@@ Wieczorek, Dagmar @@aut@@ Wollnik, Bernd @@aut@@ |
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Li, Yun |
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Li, Yun ddc 610 bkl 44.48 misc Missense Mutation misc Missense Variant misc Palpebral Fissure misc Renal Anomaly misc Causative Nature A mutation screen in patients with Kabuki syndrome |
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610 ASE 44.48 bkl A mutation screen in patients with Kabuki syndrome Missense Mutation (dpeaa)DE-He213 Missense Variant (dpeaa)DE-He213 Palpebral Fissure (dpeaa)DE-He213 Renal Anomaly (dpeaa)DE-He213 Causative Nature (dpeaa)DE-He213 |
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A mutation screen in patients with Kabuki syndrome |
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Li, Yun Bögershausen, Nina Alanay, Yasemin Simsek Kiper, Pelin Özlem Plume, Nadine Keupp, Katharina Pohl, Esther Pawlik, Barbara Rachwalski, Martin Milz, Esther Thoenes, Michaela Albrecht, Beate Prott, Eva-Christina Lehmkühler, Margret Demuth, Stephanie Utine, Gülen Eda Boduroglu, Koray Frankenbusch, Katja Borck, Guntram Gillessen-Kaesbach, Gabriele Yigit, Gökhan Wieczorek, Dagmar Wollnik, Bernd |
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mutation screen in patients with kabuki syndrome |
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A mutation screen in patients with Kabuki syndrome |
| abstract |
Abstract Kabuki syndrome (KS) is one of the classical, clinically well-known multiple anomalies/mental retardation syndromes, mainly characterized by a very distinctive facial appearance in combination with additional clinical signs such as developmental delay, short stature, persistent fingerpads, and urogenital tract anomalies. In our study, we sequenced all 54 coding exons of the recently identified MLL2 gene in 34 patients with Kabuki syndrome. We identified 18 distinct mutations in 19 patients, 11 of 12 tested de novo. Mutations were located all over the gene and included three nonsense mutations, two splice-site mutations, six small deletions or insertions, and seven missense mutations. We compared frequencies of clinical symptoms in MLL2 mutation carriers versus non-carriers. MLL2 mutation carriers significantly more often presented with short stature and renal anomalies (p = 0.026 and 0.031, respectively), and in addition, MLL2 carriers obviously showed more frequently a typical facial gestalt (17/19) compared with non-carriers (9/15), although this result was not statistically significant (p = 0.1). Mutation-negative patients were subsequently tested for mutations in ten functional candidate genes (e.g. MLL, ASC2, ASH2L, and WDR5), but no convincing causative mutations could be found. Our results indicate that MLL2 is the major gene for Kabuki syndrome with a wide spectrum of de novo mutations and strongly suggest further genetic heterogeneity. |
| abstractGer |
Abstract Kabuki syndrome (KS) is one of the classical, clinically well-known multiple anomalies/mental retardation syndromes, mainly characterized by a very distinctive facial appearance in combination with additional clinical signs such as developmental delay, short stature, persistent fingerpads, and urogenital tract anomalies. In our study, we sequenced all 54 coding exons of the recently identified MLL2 gene in 34 patients with Kabuki syndrome. We identified 18 distinct mutations in 19 patients, 11 of 12 tested de novo. Mutations were located all over the gene and included three nonsense mutations, two splice-site mutations, six small deletions or insertions, and seven missense mutations. We compared frequencies of clinical symptoms in MLL2 mutation carriers versus non-carriers. MLL2 mutation carriers significantly more often presented with short stature and renal anomalies (p = 0.026 and 0.031, respectively), and in addition, MLL2 carriers obviously showed more frequently a typical facial gestalt (17/19) compared with non-carriers (9/15), although this result was not statistically significant (p = 0.1). Mutation-negative patients were subsequently tested for mutations in ten functional candidate genes (e.g. MLL, ASC2, ASH2L, and WDR5), but no convincing causative mutations could be found. Our results indicate that MLL2 is the major gene for Kabuki syndrome with a wide spectrum of de novo mutations and strongly suggest further genetic heterogeneity. |
| abstract_unstemmed |
Abstract Kabuki syndrome (KS) is one of the classical, clinically well-known multiple anomalies/mental retardation syndromes, mainly characterized by a very distinctive facial appearance in combination with additional clinical signs such as developmental delay, short stature, persistent fingerpads, and urogenital tract anomalies. In our study, we sequenced all 54 coding exons of the recently identified MLL2 gene in 34 patients with Kabuki syndrome. We identified 18 distinct mutations in 19 patients, 11 of 12 tested de novo. Mutations were located all over the gene and included three nonsense mutations, two splice-site mutations, six small deletions or insertions, and seven missense mutations. We compared frequencies of clinical symptoms in MLL2 mutation carriers versus non-carriers. MLL2 mutation carriers significantly more often presented with short stature and renal anomalies (p = 0.026 and 0.031, respectively), and in addition, MLL2 carriers obviously showed more frequently a typical facial gestalt (17/19) compared with non-carriers (9/15), although this result was not statistically significant (p = 0.1). Mutation-negative patients were subsequently tested for mutations in ten functional candidate genes (e.g. MLL, ASC2, ASH2L, and WDR5), but no convincing causative mutations could be found. Our results indicate that MLL2 is the major gene for Kabuki syndrome with a wide spectrum of de novo mutations and strongly suggest further genetic heterogeneity. |
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A mutation screen in patients with Kabuki syndrome |
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https://dx.doi.org/10.1007/s00439-011-1004-y |
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Bögershausen, Nina Alanay, Yasemin Simsek Kiper, Pelin Özlem Plume, Nadine Keupp, Katharina Pohl, Esther Pawlik, Barbara Rachwalski, Martin Milz, Esther Thoenes, Michaela Albrecht, Beate Prott, Eva-Christina Lehmkühler, Margret Demuth, Stephanie Utine, Gülen Eda Boduroglu, Koray Frankenbusch, Katja Borck, Guntram Gillessen-Kaesbach, Gabriele Yigit, Gökhan Wieczorek, Dagmar Wollnik, Bernd |
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Bögershausen, Nina Alanay, Yasemin Simsek Kiper, Pelin Özlem Plume, Nadine Keupp, Katharina Pohl, Esther Pawlik, Barbara Rachwalski, Martin Milz, Esther Thoenes, Michaela Albrecht, Beate Prott, Eva-Christina Lehmkühler, Margret Demuth, Stephanie Utine, Gülen Eda Boduroglu, Koray Frankenbusch, Katja Borck, Guntram Gillessen-Kaesbach, Gabriele Yigit, Gökhan Wieczorek, Dagmar Wollnik, Bernd |
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2024-07-03T22:30:35.627Z |
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| score |
7.400769 |