Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents
Abstract Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes is unclear. Until recently, the extensive genetic and clinical heterogeneity of d...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Yan, Denise [verfasserIn] Tekin, Demet [verfasserIn] Bademci, Guney [verfasserIn] Foster, Joseph [verfasserIn] Cengiz, F. Basak [verfasserIn] Kannan-Sundhari, Abhiraami [verfasserIn] Guo, Shengru [verfasserIn] Mittal, Rahul [verfasserIn] Zou, Bing [verfasserIn] Grati, Mhamed [verfasserIn] Kabahuma, Rosemary I. [verfasserIn] Kameswaran, Mohan [verfasserIn] Lasisi, Taye J. [verfasserIn] Adedeji, Waheed A. [verfasserIn] Lasisi, Akeem O. [verfasserIn] Menendez, Ibis [verfasserIn] Herrera, Marianna [verfasserIn] Carranza, Claudia [verfasserIn] Maroofian, Reza [verfasserIn] Crosby, Andrew H. [verfasserIn] Bensaid, Mariem [verfasserIn] Masmoudi, Saber [verfasserIn] Behnam, Mahdiyeh [verfasserIn] Mojarrad, Majid [verfasserIn] Feng, Yong [verfasserIn] Duman, Duygu [verfasserIn] Mawla, Alex M. [verfasserIn] Nord, Alex S. [verfasserIn] Blanton, Susan H. [verfasserIn] Liu, Xue Z. [verfasserIn] Tekin, Mustafa [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2016 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Human genetics |
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| Übergeordnetes Werk: |
volume:135 ; year:2016 ; number:8 ; day:25 ; month:06 ; pages:953-961 |
| Links: |
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| DOI / URN: |
10.1007/s00439-016-1697-z |
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| 245 | 1 | 0 | |a Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents |
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| 520 | |a Abstract Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes is unclear. Until recently, the extensive genetic and clinical heterogeneity of deafness precluded comprehensive genetic analysis. Here, using a custom capture panel (MiamiOtoGenes), we undertook a targeted sequencing of 180 genes in a multi-ethnic cohort of 342 GJB2 mutation-negative deaf probands from South Africa, Nigeria, Tunisia, Turkey, Iran, India, Guatemala, and the United States (South Florida). We detected causative DNA variants in 25 % of multiplex and 7 % of simplex families. The detection rate varied between 0 and 57 % based on ethnicity, with Guatemala and Iran at the lower and higher end of the spectrum, respectively. We detected causative variants within 27 genes without predominant recurring pathogenic variants. The most commonly implicated genes include MYO15A, SLC26A4, USH2A, MYO7A, MYO6, and TRIOBP. Overall, our study highlights the importance of family history and generation of databases for multiple ethnically discrete populations to improve our ability to detect and accurately interpret genetic variants for pathogenicity. | ||
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| 700 | 1 | |a Foster, Joseph |e verfasserin |4 aut | |
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10.1007/s00439-016-1697-z doi (DE-627)SPR006365396 (SPR)s00439-016-1697-z-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Yan, Denise verfasserin aut Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes is unclear. Until recently, the extensive genetic and clinical heterogeneity of deafness precluded comprehensive genetic analysis. Here, using a custom capture panel (MiamiOtoGenes), we undertook a targeted sequencing of 180 genes in a multi-ethnic cohort of 342 GJB2 mutation-negative deaf probands from South Africa, Nigeria, Tunisia, Turkey, Iran, India, Guatemala, and the United States (South Florida). We detected causative DNA variants in 25 % of multiplex and 7 % of simplex families. The detection rate varied between 0 and 57 % based on ethnicity, with Guatemala and Iran at the lower and higher end of the spectrum, respectively. We detected causative variants within 27 genes without predominant recurring pathogenic variants. The most commonly implicated genes include MYO15A, SLC26A4, USH2A, MYO7A, MYO6, and TRIOBP. Overall, our study highlights the importance of family history and generation of databases for multiple ethnically discrete populations to improve our ability to detect and accurately interpret genetic variants for pathogenicity. Hearing Loss (dpeaa)DE-He213 Causative Variant (dpeaa)DE-He213 Multiplex Family (dpeaa)DE-He213 Simplex Family (dpeaa)DE-He213 Genetic Hearing Loss (dpeaa)DE-He213 Tekin, Demet verfasserin aut Bademci, Guney verfasserin aut Foster, Joseph verfasserin aut Cengiz, F. Basak verfasserin aut Kannan-Sundhari, Abhiraami verfasserin aut Guo, Shengru verfasserin aut Mittal, Rahul verfasserin aut Zou, Bing verfasserin aut Grati, Mhamed verfasserin aut Kabahuma, Rosemary I. verfasserin aut Kameswaran, Mohan verfasserin aut Lasisi, Taye J. verfasserin aut Adedeji, Waheed A. verfasserin aut Lasisi, Akeem O. verfasserin aut Menendez, Ibis verfasserin aut Herrera, Marianna verfasserin aut Carranza, Claudia verfasserin aut Maroofian, Reza verfasserin aut Crosby, Andrew H. verfasserin aut Bensaid, Mariem verfasserin aut Masmoudi, Saber verfasserin aut Behnam, Mahdiyeh verfasserin aut Mojarrad, Majid verfasserin aut Feng, Yong verfasserin aut Duman, Duygu verfasserin aut Mawla, Alex M. verfasserin aut Nord, Alex S. verfasserin aut Blanton, Susan H. verfasserin aut Liu, Xue Z. verfasserin aut Tekin, Mustafa verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 135(2016), 8 vom: 25. Juni, Seite 953-961 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:135 year:2016 number:8 day:25 month:06 pages:953-961 https://dx.doi.org/10.1007/s00439-016-1697-z 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 135 2016 8 25 06 953-961 |
| spelling |
10.1007/s00439-016-1697-z doi (DE-627)SPR006365396 (SPR)s00439-016-1697-z-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Yan, Denise verfasserin aut Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes is unclear. Until recently, the extensive genetic and clinical heterogeneity of deafness precluded comprehensive genetic analysis. Here, using a custom capture panel (MiamiOtoGenes), we undertook a targeted sequencing of 180 genes in a multi-ethnic cohort of 342 GJB2 mutation-negative deaf probands from South Africa, Nigeria, Tunisia, Turkey, Iran, India, Guatemala, and the United States (South Florida). We detected causative DNA variants in 25 % of multiplex and 7 % of simplex families. The detection rate varied between 0 and 57 % based on ethnicity, with Guatemala and Iran at the lower and higher end of the spectrum, respectively. We detected causative variants within 27 genes without predominant recurring pathogenic variants. The most commonly implicated genes include MYO15A, SLC26A4, USH2A, MYO7A, MYO6, and TRIOBP. Overall, our study highlights the importance of family history and generation of databases for multiple ethnically discrete populations to improve our ability to detect and accurately interpret genetic variants for pathogenicity. Hearing Loss (dpeaa)DE-He213 Causative Variant (dpeaa)DE-He213 Multiplex Family (dpeaa)DE-He213 Simplex Family (dpeaa)DE-He213 Genetic Hearing Loss (dpeaa)DE-He213 Tekin, Demet verfasserin aut Bademci, Guney verfasserin aut Foster, Joseph verfasserin aut Cengiz, F. Basak verfasserin aut Kannan-Sundhari, Abhiraami verfasserin aut Guo, Shengru verfasserin aut Mittal, Rahul verfasserin aut Zou, Bing verfasserin aut Grati, Mhamed verfasserin aut Kabahuma, Rosemary I. verfasserin aut Kameswaran, Mohan verfasserin aut Lasisi, Taye J. verfasserin aut Adedeji, Waheed A. verfasserin aut Lasisi, Akeem O. verfasserin aut Menendez, Ibis verfasserin aut Herrera, Marianna verfasserin aut Carranza, Claudia verfasserin aut Maroofian, Reza verfasserin aut Crosby, Andrew H. verfasserin aut Bensaid, Mariem verfasserin aut Masmoudi, Saber verfasserin aut Behnam, Mahdiyeh verfasserin aut Mojarrad, Majid verfasserin aut Feng, Yong verfasserin aut Duman, Duygu verfasserin aut Mawla, Alex M. verfasserin aut Nord, Alex S. verfasserin aut Blanton, Susan H. verfasserin aut Liu, Xue Z. verfasserin aut Tekin, Mustafa verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 135(2016), 8 vom: 25. Juni, Seite 953-961 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:135 year:2016 number:8 day:25 month:06 pages:953-961 https://dx.doi.org/10.1007/s00439-016-1697-z 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 135 2016 8 25 06 953-961 |
| allfields_unstemmed |
10.1007/s00439-016-1697-z doi (DE-627)SPR006365396 (SPR)s00439-016-1697-z-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Yan, Denise verfasserin aut Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes is unclear. Until recently, the extensive genetic and clinical heterogeneity of deafness precluded comprehensive genetic analysis. Here, using a custom capture panel (MiamiOtoGenes), we undertook a targeted sequencing of 180 genes in a multi-ethnic cohort of 342 GJB2 mutation-negative deaf probands from South Africa, Nigeria, Tunisia, Turkey, Iran, India, Guatemala, and the United States (South Florida). We detected causative DNA variants in 25 % of multiplex and 7 % of simplex families. The detection rate varied between 0 and 57 % based on ethnicity, with Guatemala and Iran at the lower and higher end of the spectrum, respectively. We detected causative variants within 27 genes without predominant recurring pathogenic variants. The most commonly implicated genes include MYO15A, SLC26A4, USH2A, MYO7A, MYO6, and TRIOBP. Overall, our study highlights the importance of family history and generation of databases for multiple ethnically discrete populations to improve our ability to detect and accurately interpret genetic variants for pathogenicity. Hearing Loss (dpeaa)DE-He213 Causative Variant (dpeaa)DE-He213 Multiplex Family (dpeaa)DE-He213 Simplex Family (dpeaa)DE-He213 Genetic Hearing Loss (dpeaa)DE-He213 Tekin, Demet verfasserin aut Bademci, Guney verfasserin aut Foster, Joseph verfasserin aut Cengiz, F. Basak verfasserin aut Kannan-Sundhari, Abhiraami verfasserin aut Guo, Shengru verfasserin aut Mittal, Rahul verfasserin aut Zou, Bing verfasserin aut Grati, Mhamed verfasserin aut Kabahuma, Rosemary I. verfasserin aut Kameswaran, Mohan verfasserin aut Lasisi, Taye J. verfasserin aut Adedeji, Waheed A. verfasserin aut Lasisi, Akeem O. verfasserin aut Menendez, Ibis verfasserin aut Herrera, Marianna verfasserin aut Carranza, Claudia verfasserin aut Maroofian, Reza verfasserin aut Crosby, Andrew H. verfasserin aut Bensaid, Mariem verfasserin aut Masmoudi, Saber verfasserin aut Behnam, Mahdiyeh verfasserin aut Mojarrad, Majid verfasserin aut Feng, Yong verfasserin aut Duman, Duygu verfasserin aut Mawla, Alex M. verfasserin aut Nord, Alex S. verfasserin aut Blanton, Susan H. verfasserin aut Liu, Xue Z. verfasserin aut Tekin, Mustafa verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 135(2016), 8 vom: 25. Juni, Seite 953-961 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:135 year:2016 number:8 day:25 month:06 pages:953-961 https://dx.doi.org/10.1007/s00439-016-1697-z 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 135 2016 8 25 06 953-961 |
| allfieldsGer |
10.1007/s00439-016-1697-z doi (DE-627)SPR006365396 (SPR)s00439-016-1697-z-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Yan, Denise verfasserin aut Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes is unclear. Until recently, the extensive genetic and clinical heterogeneity of deafness precluded comprehensive genetic analysis. Here, using a custom capture panel (MiamiOtoGenes), we undertook a targeted sequencing of 180 genes in a multi-ethnic cohort of 342 GJB2 mutation-negative deaf probands from South Africa, Nigeria, Tunisia, Turkey, Iran, India, Guatemala, and the United States (South Florida). We detected causative DNA variants in 25 % of multiplex and 7 % of simplex families. The detection rate varied between 0 and 57 % based on ethnicity, with Guatemala and Iran at the lower and higher end of the spectrum, respectively. We detected causative variants within 27 genes without predominant recurring pathogenic variants. The most commonly implicated genes include MYO15A, SLC26A4, USH2A, MYO7A, MYO6, and TRIOBP. Overall, our study highlights the importance of family history and generation of databases for multiple ethnically discrete populations to improve our ability to detect and accurately interpret genetic variants for pathogenicity. Hearing Loss (dpeaa)DE-He213 Causative Variant (dpeaa)DE-He213 Multiplex Family (dpeaa)DE-He213 Simplex Family (dpeaa)DE-He213 Genetic Hearing Loss (dpeaa)DE-He213 Tekin, Demet verfasserin aut Bademci, Guney verfasserin aut Foster, Joseph verfasserin aut Cengiz, F. Basak verfasserin aut Kannan-Sundhari, Abhiraami verfasserin aut Guo, Shengru verfasserin aut Mittal, Rahul verfasserin aut Zou, Bing verfasserin aut Grati, Mhamed verfasserin aut Kabahuma, Rosemary I. verfasserin aut Kameswaran, Mohan verfasserin aut Lasisi, Taye J. verfasserin aut Adedeji, Waheed A. verfasserin aut Lasisi, Akeem O. verfasserin aut Menendez, Ibis verfasserin aut Herrera, Marianna verfasserin aut Carranza, Claudia verfasserin aut Maroofian, Reza verfasserin aut Crosby, Andrew H. verfasserin aut Bensaid, Mariem verfasserin aut Masmoudi, Saber verfasserin aut Behnam, Mahdiyeh verfasserin aut Mojarrad, Majid verfasserin aut Feng, Yong verfasserin aut Duman, Duygu verfasserin aut Mawla, Alex M. verfasserin aut Nord, Alex S. verfasserin aut Blanton, Susan H. verfasserin aut Liu, Xue Z. verfasserin aut Tekin, Mustafa verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 135(2016), 8 vom: 25. Juni, Seite 953-961 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:135 year:2016 number:8 day:25 month:06 pages:953-961 https://dx.doi.org/10.1007/s00439-016-1697-z 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 135 2016 8 25 06 953-961 |
| allfieldsSound |
10.1007/s00439-016-1697-z doi (DE-627)SPR006365396 (SPR)s00439-016-1697-z-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Yan, Denise verfasserin aut Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes is unclear. Until recently, the extensive genetic and clinical heterogeneity of deafness precluded comprehensive genetic analysis. Here, using a custom capture panel (MiamiOtoGenes), we undertook a targeted sequencing of 180 genes in a multi-ethnic cohort of 342 GJB2 mutation-negative deaf probands from South Africa, Nigeria, Tunisia, Turkey, Iran, India, Guatemala, and the United States (South Florida). We detected causative DNA variants in 25 % of multiplex and 7 % of simplex families. The detection rate varied between 0 and 57 % based on ethnicity, with Guatemala and Iran at the lower and higher end of the spectrum, respectively. We detected causative variants within 27 genes without predominant recurring pathogenic variants. The most commonly implicated genes include MYO15A, SLC26A4, USH2A, MYO7A, MYO6, and TRIOBP. Overall, our study highlights the importance of family history and generation of databases for multiple ethnically discrete populations to improve our ability to detect and accurately interpret genetic variants for pathogenicity. Hearing Loss (dpeaa)DE-He213 Causative Variant (dpeaa)DE-He213 Multiplex Family (dpeaa)DE-He213 Simplex Family (dpeaa)DE-He213 Genetic Hearing Loss (dpeaa)DE-He213 Tekin, Demet verfasserin aut Bademci, Guney verfasserin aut Foster, Joseph verfasserin aut Cengiz, F. Basak verfasserin aut Kannan-Sundhari, Abhiraami verfasserin aut Guo, Shengru verfasserin aut Mittal, Rahul verfasserin aut Zou, Bing verfasserin aut Grati, Mhamed verfasserin aut Kabahuma, Rosemary I. verfasserin aut Kameswaran, Mohan verfasserin aut Lasisi, Taye J. verfasserin aut Adedeji, Waheed A. verfasserin aut Lasisi, Akeem O. verfasserin aut Menendez, Ibis verfasserin aut Herrera, Marianna verfasserin aut Carranza, Claudia verfasserin aut Maroofian, Reza verfasserin aut Crosby, Andrew H. verfasserin aut Bensaid, Mariem verfasserin aut Masmoudi, Saber verfasserin aut Behnam, Mahdiyeh verfasserin aut Mojarrad, Majid verfasserin aut Feng, Yong verfasserin aut Duman, Duygu verfasserin aut Mawla, Alex M. verfasserin aut Nord, Alex S. verfasserin aut Blanton, Susan H. verfasserin aut Liu, Xue Z. verfasserin aut Tekin, Mustafa verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 135(2016), 8 vom: 25. Juni, Seite 953-961 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:135 year:2016 number:8 day:25 month:06 pages:953-961 https://dx.doi.org/10.1007/s00439-016-1697-z 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 135 2016 8 25 06 953-961 |
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Enthalten in Human genetics <Berlin> 135(2016), 8 vom: 25. Juni, Seite 953-961 volume:135 year:2016 number:8 day:25 month:06 pages:953-961 |
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Enthalten in Human genetics <Berlin> 135(2016), 8 vom: 25. Juni, Seite 953-961 volume:135 year:2016 number:8 day:25 month:06 pages:953-961 |
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findex.gbv.de |
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Hearing Loss Causative Variant Multiplex Family Simplex Family Genetic Hearing Loss |
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Human genetics <Berlin> |
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Yan, Denise @@aut@@ Tekin, Demet @@aut@@ Bademci, Guney @@aut@@ Foster, Joseph @@aut@@ Cengiz, F. Basak @@aut@@ Kannan-Sundhari, Abhiraami @@aut@@ Guo, Shengru @@aut@@ Mittal, Rahul @@aut@@ Zou, Bing @@aut@@ Grati, Mhamed @@aut@@ Kabahuma, Rosemary I. @@aut@@ Kameswaran, Mohan @@aut@@ Lasisi, Taye J. @@aut@@ Adedeji, Waheed A. @@aut@@ Lasisi, Akeem O. @@aut@@ Menendez, Ibis @@aut@@ Herrera, Marianna @@aut@@ Carranza, Claudia @@aut@@ Maroofian, Reza @@aut@@ Crosby, Andrew H. @@aut@@ Bensaid, Mariem @@aut@@ Masmoudi, Saber @@aut@@ Behnam, Mahdiyeh @@aut@@ Mojarrad, Majid @@aut@@ Feng, Yong @@aut@@ Duman, Duygu @@aut@@ Mawla, Alex M. @@aut@@ Nord, Alex S. @@aut@@ Blanton, Susan H. @@aut@@ Liu, Xue Z. @@aut@@ Tekin, Mustafa @@aut@@ |
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2016-06-25T00:00:00Z |
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Yan, Denise |
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Yan, Denise ddc 610 bkl 44.48 misc Hearing Loss misc Causative Variant misc Multiplex Family misc Simplex Family misc Genetic Hearing Loss Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents |
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610 ASE 44.48 bkl Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents Hearing Loss (dpeaa)DE-He213 Causative Variant (dpeaa)DE-He213 Multiplex Family (dpeaa)DE-He213 Simplex Family (dpeaa)DE-He213 Genetic Hearing Loss (dpeaa)DE-He213 |
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Yan, Denise Tekin, Demet Bademci, Guney Foster, Joseph Cengiz, F. Basak Kannan-Sundhari, Abhiraami Guo, Shengru Mittal, Rahul Zou, Bing Grati, Mhamed Kabahuma, Rosemary I. Kameswaran, Mohan Lasisi, Taye J. Adedeji, Waheed A. Lasisi, Akeem O. Menendez, Ibis Herrera, Marianna Carranza, Claudia Maroofian, Reza Crosby, Andrew H. Bensaid, Mariem Masmoudi, Saber Behnam, Mahdiyeh Mojarrad, Majid Feng, Yong Duman, Duygu Mawla, Alex M. Nord, Alex S. Blanton, Susan H. Liu, Xue Z. Tekin, Mustafa |
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spectrum of dna variants for non-syndromic deafness in a large cohort from multiple continents |
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Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents |
| abstract |
Abstract Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes is unclear. Until recently, the extensive genetic and clinical heterogeneity of deafness precluded comprehensive genetic analysis. Here, using a custom capture panel (MiamiOtoGenes), we undertook a targeted sequencing of 180 genes in a multi-ethnic cohort of 342 GJB2 mutation-negative deaf probands from South Africa, Nigeria, Tunisia, Turkey, Iran, India, Guatemala, and the United States (South Florida). We detected causative DNA variants in 25 % of multiplex and 7 % of simplex families. The detection rate varied between 0 and 57 % based on ethnicity, with Guatemala and Iran at the lower and higher end of the spectrum, respectively. We detected causative variants within 27 genes without predominant recurring pathogenic variants. The most commonly implicated genes include MYO15A, SLC26A4, USH2A, MYO7A, MYO6, and TRIOBP. Overall, our study highlights the importance of family history and generation of databases for multiple ethnically discrete populations to improve our ability to detect and accurately interpret genetic variants for pathogenicity. |
| abstractGer |
Abstract Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes is unclear. Until recently, the extensive genetic and clinical heterogeneity of deafness precluded comprehensive genetic analysis. Here, using a custom capture panel (MiamiOtoGenes), we undertook a targeted sequencing of 180 genes in a multi-ethnic cohort of 342 GJB2 mutation-negative deaf probands from South Africa, Nigeria, Tunisia, Turkey, Iran, India, Guatemala, and the United States (South Florida). We detected causative DNA variants in 25 % of multiplex and 7 % of simplex families. The detection rate varied between 0 and 57 % based on ethnicity, with Guatemala and Iran at the lower and higher end of the spectrum, respectively. We detected causative variants within 27 genes without predominant recurring pathogenic variants. The most commonly implicated genes include MYO15A, SLC26A4, USH2A, MYO7A, MYO6, and TRIOBP. Overall, our study highlights the importance of family history and generation of databases for multiple ethnically discrete populations to improve our ability to detect and accurately interpret genetic variants for pathogenicity. |
| abstract_unstemmed |
Abstract Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes is unclear. Until recently, the extensive genetic and clinical heterogeneity of deafness precluded comprehensive genetic analysis. Here, using a custom capture panel (MiamiOtoGenes), we undertook a targeted sequencing of 180 genes in a multi-ethnic cohort of 342 GJB2 mutation-negative deaf probands from South Africa, Nigeria, Tunisia, Turkey, Iran, India, Guatemala, and the United States (South Florida). We detected causative DNA variants in 25 % of multiplex and 7 % of simplex families. The detection rate varied between 0 and 57 % based on ethnicity, with Guatemala and Iran at the lower and higher end of the spectrum, respectively. We detected causative variants within 27 genes without predominant recurring pathogenic variants. The most commonly implicated genes include MYO15A, SLC26A4, USH2A, MYO7A, MYO6, and TRIOBP. Overall, our study highlights the importance of family history and generation of databases for multiple ethnically discrete populations to improve our ability to detect and accurately interpret genetic variants for pathogenicity. |
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Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents |
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Tekin, Demet Bademci, Guney Foster, Joseph Cengiz, F. Basak Kannan-Sundhari, Abhiraami Guo, Shengru Mittal, Rahul Zou, Bing Grati, Mhamed Kabahuma, Rosemary I. Kameswaran, Mohan Lasisi, Taye J. Adedeji, Waheed A. Lasisi, Akeem O. Menendez, Ibis Herrera, Marianna Carranza, Claudia Maroofian, Reza Crosby, Andrew H. Bensaid, Mariem Masmoudi, Saber Behnam, Mahdiyeh Mojarrad, Majid Feng, Yong Duman, Duygu Mawla, Alex M. Nord, Alex S. Blanton, Susan H. Liu, Xue Z. Tekin, Mustafa |
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| score |
7.399748 |