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Article

Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: assessment of GJB4, GJA1, and GJC3.

International journal of pediatric otorhinolaryngology - 1 Feb 2013

Kooshavar Daniz, Tabatabaiefar Mohammad Amin, Farrokhi Effat, Abolhasani Marziye, Noori-Daloii Mohammad-Reza, Hashemzadeh-Chaleshtori Morteza

Abstract excerpt

OBJECTIVE: Autosomal recessive non-syndromic hearing loss (ARNSHL) can be caused by many genes. However, mutations in the GJB2 gene, which encodes the gap-junction (GJ) protein connexin (Cx) 26, constitute a considerable proportion differing among population. Between 10 and 42 percent of patients with recessive GJB2 mutations carry only one mutant allele. Mutations in GJB4, GJA1, and GJC3 encoding Cx30.3, Cx43,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23141803
DOI: 10.1016/j.ijporl.2012.10.015

Genes

GJB2
GJB4
GJA1
GJC3

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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