GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population.

Abstract

Mutations in the GJB2 gene are responsible for more than half of all cases of recessive non-syndromic deafness. This article presents a mutation analysis of the GJB2, GJB6, OTOF and MTRNR1 genes in 252 patients with sensorineural non-syndromic hearing loss. Thirty-one different mutations were identified in GJB2 and GJB6 in 86 of the 252 (34%) patients. We… (More)
DOI: 10.1159/000254487

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@article{Dalamn2010GJB2AG, title={GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population.}, author={Viviana Karina Dalam{\'o}n and Vanesa Lotersztein and Agustina B{\'e}h{\`e}ran and Marcela Lipovsek and Fernando Diamante and Norma Pallares and Liliana Francipane and Gustavo Daniel Frechtel and Bibiana Paoli and Enrique Mansilla and Vicente Diamante and Ana Bel{\'e}n Elgoyhen}, journal={Audiology & neuro-otology}, year={2010}, volume={15 3}, pages={194-202} }