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Article

Natural history and phenotype-genotype correlations in GJB2-related hearing loss: a systematic and comprehensive review.

Journal of genetics and genomics = Yi chuan xue bao - 1 Aug 2026

Chen Liheng, Wen Cheng, Li Weitao, Zhang Bowen, Cui Chong, Yu Sha, Ye Cheng, Li Wei, Lu Yu, Liu Huanhai, Li Huawei, Yuan Huijun, Wang Qin, Shu Yilai

Abstract excerpt

GJB2-related hearing loss is the most common type of hereditary hearing loss worldwide. However, its complex inheritance patterns, diverse phenotypic manifestations, and population-specific variant spectrum present significant challenges for both clinical practice and research. This review synthesizes evidence from 215 studies (7142 individuals) to quantitatively analyze the natural history and genotype-phenotype...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41690513
DOI: 10.1016/j.jgg.2026.02.006

Genes

GJB2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Natural history and phenotype-genotype correlations in GJB2-related hearing loss: a systematic and comprehensive review.PMID 41690513Read ↗

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