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Article

Prevalence of GJB2 gene mutations in nonsyndromic hearing impairments: A systematic review and meta-analysis.

Medicine - 29 May 2026

Feng Ruijie, Mangantig Ernest, Wan Yusoff Wan Shahriman Yushdie, Li Hui, Li Xiaoze, Abu Mohd Nazri

Abstract excerpt

BACKGROUND: Nonsyndromic hearing impairment (NSHI) is the most common type of inherited hearing loss. Mutations in GJB2, which encodes connexin 26, are a major cause worldwide, but their prevalence and variant distribution vary across populations. To systematically evaluate the global prevalence of GJB2 mutations and 5 hotspot variants (c.35delG, c.176_191del16, c.235delC, c.299_300delAT, and c.109G > A) in NSHI...

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Identifiers

PMID: 42216359
DOI: 10.1097/MD.0000000000048877
PMCID: PMC13225560

Genes

GJB2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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