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Article

GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies.

International journal of molecular sciences - 3 Jan 2026

Morris Julia Anne, Gonzalez Tomas, Blanton Susan H, Angeli Simon Ignacio, Liu Xue Zhong

Abstract excerpt

This review integrates molecular, clinical, and translational data to provide an updated understanding of GJB2-related deafness and its emerging treatment landscape. Truncating mutations in GJB2 typically cause severe-profound hearing loss (HL) phenotypes, whereas non-truncating alleles are often associated with milder or progressive phenotypes. Geographic variation in variant prevalence contributes to regional...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41516362
DOI: 10.3390/ijms27010491
PMCID: PMC12787082

Genes

GJB2
CRYL1
GJB6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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