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Article

Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.

European journal of medical genetics - 1 Jun 2016

Bakhchane Amina, Bousfiha Amale, Charoute Hicham, Salime Sara, Detsouli Mustapha, Snoussi Khalid, Nadifi Sellama, Kabine Mostafa, Rouba Hassan, Dehbi Hind, Roky Rachida, Charif Majida, Barakat Abdelhamid

Abstract excerpt

Deafness is one of the most common genetic diseases in humans and is subject to important genetic heterogeneity. The most common cause of non syndromic hearing loss (NSHL) is mutations in the GJB2 gene. This study aims to update and evaluate the spectrum of GJB2 allele variants in 152 Moroccan multiplex families with non syndromic hearing loss. Seven different mutations were detected: c.35delG, p.V37I, p.E47X,...

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Source

Identifiers

PMID: 27169813
DOI: 10.1016/j.ejmg.2016.05.002

Genes

GJB2

Variants

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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