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Article

A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families.

International journal of pediatric otorhinolaryngology - 1 Sept 2013

Riahi Zied, Chahed Houda, Jaafoura Habib, Zainine Rim, Messaoud Olfa, Naili Mohamed, Nagara Majdi, Hammami Hassan, Laroussi Nadia, Bouyacoub Yosra, Kefi Rym, Bonnet Crystel, Besbes Ghazi, Abdelhak Sonia

Abstract excerpt

OBJECTIVES: Mutations in GJB2 are found to be responsible for 50% of congenital autosomal recessive non-syndromic hearing loss, one of the most important mutations in this gene is the c.35delG, which is responsible for the majority of GJB2 related deafness in the Tunisian population. The aim of this study was to determine the molecular etiology of hearing loss in two Tunisian individuals. METHODS: We screened two...

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Source

Identifiers

PMID: 23856379
DOI: 10.1016/j.ijporl.2013.06.015

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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