Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

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dc.contributor.authorBademci, Guney
dc.contributor.authorFoster, Joseph, II
dc.contributor.authorMahdieh, Nejat
dc.contributor.authorBonyadi, Mortaza
dc.contributor.authorDuman, Duygu
dc.contributor.authorCengiz, F. Basak
dc.contributor.authorMenendez, Ibis
dc.date.accessioned2024-04-24T16:19:13Z
dc.date.available2024-04-24T16:19:13Z
dc.date.issued2016
dc.departmentDicle Üniversitesien_US
dc.description.abstractPurpose: Autosomal recessive nonsyndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity, with reported mutations in 58 different genes. This study was designed to detect deafness-causing variants in a multiethnic cohort with ARNSD by using whole-exome sequencing (WES). Methods: After excluding mutations in the most common gene, GJB2, we performed WES in 160 multiplex families with ARNSD from Turkey, Iran, Mexico, Ecuador, and Puerto Rico to screen for mutations in all known ARNSD genes. Results: We detected ARNSD-causing variants in 90 (56%) families, 54% of which had not been previously reported. Identified mutations were located in 31 known ARNSD genes. The most common genes with mutations were MYO15A (13%), MYO7A (11%), SLC26A4 (10%), TMPRSS3 (9%), TMC1 (8%), ILDR1 (6%), and CDH23 (4%). Nine mutations were detected in multiple families with shared-haplotypes, suggesting founder effects. Conclusion: We report on a large multiethnic cohort with ARNSD in which comprehensive analysis of all known ARNSD genes identifies causative DNA variants in 56% of the families. In the remaining-families, WES allows us to search for causative variants in novel genes, thus improving our ability to explain the underlying etiology in more families.en_US
dc.description.sponsorshipNational Institutes of Health [R01DC009645]en_US
dc.description.sponsorshipThis work was supported by National Institutes of Health grant R01DC009645 (to M.T.).en_US
dc.identifier.doi10.1038/gim.2015.89
dc.identifier.endpage371en_US
dc.identifier.issn1098-3600
dc.identifier.issn1530-0366
dc.identifier.issue4en_US
dc.identifier.pmid26226137
dc.identifier.scopus2-s2.0-84962614845
dc.identifier.scopusqualityQ1
dc.identifier.startpage364en_US
dc.identifier.urihttps://doi.org/10.1038/gim.2015.89
dc.identifier.urihttps://hdl.handle.net/11468/16433
dc.identifier.volume18en_US
dc.identifier.wosWOS:000373362300013
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherNature Publishing Groupen_US
dc.relation.ispartofGenetics in Medicine
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectAutosomal Recessiveen_US
dc.subjectDeafnessen_US
dc.subjectExomeen_US
dc.subjectNext-Generation Sequencingen_US
dc.titleComprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohorten_US
dc.titleComprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort
dc.typeArticleen_US

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