Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620225
Title:
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
Authors:
Yan, D.; Tekin, D.; Bademci, G.; Foster, J.; Cengiz, F. B.; Kannan-Sundhari, A.; Guo, S.; Mittal, R.; Zou, B.; Grati, M.; Kabahuma, R. I.; Kameswaran, M.; Lasisi, T. J.; Adedeji, W. A.; Lasisi, A. O.; Menendez, I.; Herrera, M.; Carranza, C.; Maroofian, R.; Crosby, Andrew H.; Bensaid, M.; Masmoudi, S.; Behnam, M.; Mojarrad, M.; Feng, Y.; Duman, D.; Mawla, A. M.; Nord, A. S.; Blanton, S. H.; Liu, X. Z.; Tekin, M.
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.
Citation:
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. 2016, 135 (8):953-61 Hum. Genet.
Publisher:
Springer
Journal:
Human Genetics
Issue Date:
Aug-2016
URI:
http://hdl.handle.net/11287/620225
DOI:
10.1007/s00439-016-1697-z
PubMed ID:
27344577
Additional Links:
https://dx.doi.org/10.1007/s00439-016-1697-z
Type:
Journal Article
Language:
en
ISSN:
1432-1203
Appears in Collections:
Honorary contracts publications; 2016 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorYan, D.en
dc.contributor.authorTekin, D.en
dc.contributor.authorBademci, G.en
dc.contributor.authorFoster, J.en
dc.contributor.authorCengiz, F. B.en
dc.contributor.authorKannan-Sundhari, A.en
dc.contributor.authorGuo, S.en
dc.contributor.authorMittal, R.en
dc.contributor.authorZou, B.en
dc.contributor.authorGrati, M.en
dc.contributor.authorKabahuma, R. I.en
dc.contributor.authorKameswaran, M.en
dc.contributor.authorLasisi, T. J.en
dc.contributor.authorAdedeji, W. A.en
dc.contributor.authorLasisi, A. O.en
dc.contributor.authorMenendez, I.en
dc.contributor.authorHerrera, M.en
dc.contributor.authorCarranza, C.en
dc.contributor.authorMaroofian, R.en
dc.contributor.authorCrosby, Andrew H.en
dc.contributor.authorBensaid, M.en
dc.contributor.authorMasmoudi, S.en
dc.contributor.authorBehnam, M.en
dc.contributor.authorMojarrad, M.en
dc.contributor.authorFeng, Y.en
dc.contributor.authorDuman, D.en
dc.contributor.authorMawla, A. M.en
dc.contributor.authorNord, A. S.en
dc.contributor.authorBlanton, S. H.en
dc.contributor.authorLiu, X. Z.en
dc.contributor.authorTekin, M.en
dc.date.accessioned2017-02-21T12:15:07Z-
dc.date.available2017-02-21T12:15:07Z-
dc.date.issued2016-08-
dc.identifier.citationSpectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. 2016, 135 (8):953-61 Hum. Genet.en
dc.identifier.issn1432-1203-
dc.identifier.pmid27344577-
dc.identifier.doi10.1007/s00439-016-1697-z-
dc.identifier.urihttp://hdl.handle.net/11287/620225-
dc.description.abstractHearing 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.en
dc.language.isoenen
dc.publisherSpringeren
dc.relation.urlhttps://dx.doi.org/10.1007/s00439-016-1697-zen
dc.rightsArchived with thanks to Human Geneticsen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleSpectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.en
dc.typeJournal Articleen
dc.identifier.journalHuman Geneticsen
dc.type.versionPublisheden

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