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dc.contributor.authorBademci, Guney
dc.contributor.authorFoster, Joseph
dc.contributor.authorMahdieh, Nejat
dc.contributor.authorBonyadi, Mortaza
dc.contributor.authorDuman, Duygu
dc.contributor.authorCengiz, F.Basak
dc.contributor.authorMenendez, Ibis
dc.contributor.authorHorta, Oscar Diaz
dc.contributor.authorShirkavand, Atefeh
dc.contributor.authorZeinali, Sirous
dc.contributor.authorSubasioglu, Asli
dc.contributor.authorTokgoz-Yilmaz, Suna
dc.contributor.authorHernandez, Fabiola Huesca
dc.contributor.authorde la Luz Arenas Sordo, Maria
dc.contributor.authorDominguez-Aburto, Juan
dc.contributor.authorHernandez-Zamora, Edgar
dc.contributor.authorMontenegro, Paola
dc.contributor.authorParedes, Rosario
dc.contributor.authorMoreta, Germania
dc.contributor.authorVinueza, Rodrigo
dc.contributor.authorVillegas, Franklin
dc.contributor.authorMendoza Benitez, Santiago
dc.contributor.authorGuo, Shengru
dc.contributor.authorBozan, Nazim
dc.contributor.authorTos, Tulay
dc.contributor.authorIncesulu, Armagan
dc.contributor.authorSennaroglu, Gonca
dc.contributor.authorBlanton, Susan H.
dc.contributor.authorOzturkmen Akay, Hatice
dc.contributor.authorYildirim-Baylan, Muzeyyen
dc.contributor.authorTekin, Mustafa
dc.date.accessioned2019-12-19T07:13:29Z
dc.date.available2019-12-19T07:13:29Z
dc.date.issued2016
dc.identifier.issn1098-3600
dc.identifier.urihttps://doi.org/10.1038/gim.2015.89
dc.identifier.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4733433/
dc.identifier.urihttp://hdl.handle.net/11655/20999
dc.description.abstractPurpose Autosomal recessive non-syndromic 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.
dc.relation.isversionof10.1038/gim.2015.89
dc.rightsinfo:eu-repo/semantics/openAccess
dc.titleComprehensive Analysis Via Exome Sequencing Uncovers Genetic Etiology In Autosomal Recessive Non-Syndromic Deafness In A Large Multiethnic Cohort
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.relation.journalGenetics in medicine : official journal of the American College of Medical Genetics
dc.contributor.departmentOdyoloji
dc.identifier.volume18
dc.identifier.issue4
dc.identifier.startpage364
dc.identifier.endpage371
dc.description.indexPubMed
dc.description.indexWoS
dc.description.indexScopus


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