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

doi:10.1038/gim.2015.89

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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2016

Bademci Guney, Foster Joseph, Mahdieh Nejat, Bonyadi Mortaza, Duman Duygu, Cengiz F Basak, Menendez Ibis, Diaz-Horta Oscar, Shirkavand Atefeh, Zeinali Sirous, Subasioglu Asli, Tokgoz-Yilmaz Suna, Huesca-Hernandez Fabiola, de la Luz Arenas-Sordo Maria, Dominguez-Aburto Juan, Hernandez-Zamora Edgar, Montenegro Paola, Paredes Rosario, Moreta Germania, Vinueza Rodrigo, Villegas Franklin, Mendoza-Benitez Santiago, Guo Shengru, Bozan Nazim, Tos Tulay, Incesulu Armagan, Sennaroglu Gonca, Blanton Susan H, Ozturkmen-Akay Hatice, Yildirim-Baylan Muzeyyen, Tekin Mustafa

Abstract excerpt

PURPOSE: 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26226137
DOI: 10.1038/gim.2015.89
PMCID: PMC4733433

Genes

CDH23
GJB2
ILDR1
TMC1
TMPRSS3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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