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Article

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Kenneson Aileen, Van Naarden Braun Kim, Boyle Coleen

Abstract excerpt

Despite the enormous heterogeneity of genetic hearing loss, variants in one locus, Gap Junction Beta 2 or GJB2 (connexin 26), account for up to 50% of cases of nonsyndromic sensorineural hearing loss in some populations. This article reviews genetic epidemiology studies of the alleles of GJB2, prevalence rates, genotype-phenotype relations, contribution to the incidence of hearing loss, and other issues related...

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Source

Identifiers

PMID: 12172392
DOI: 10.1097/00125817-200207000-00004

Genes

GJB2

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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