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Article

Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil.

Annals of human genetics - 1 Nov 2016

Manzoli Gabrielle N, Bademci Guney, Acosta Angelina X, Félix Têmis M, Cengiz F Basak, Foster Joseph, Da Silva Danniel S Dias, Menendez Ibis, Sanchez-Pena Isalis, Tekin Demet, Blanton Susan H, Abe-Sandes Kiyoko, Liu Xue Zhong, Tekin Mustafa

Abstract excerpt

Identifying the genetic etiology in a person with hearing loss (HL) is challenging due to the extreme genetic heterogeneity in HL and the population-specific variability. In this study, after excluding GJB2 variants, targeted resequencing of 180 deafness-related genes revealed the causative variants in 11 of 19 (58%) Brazilian probands with autosomal recessive HL. Identified pathogenic variants were in MYO15A (10...

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Identifiers

PMID: 27870113
DOI: 10.1111/ahg.12177
PMCID: PMC5127167

Genes

CLDN14
GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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