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Article

The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates.

European journal of human genetics : EJHG - 1 Mar 2025

Kriukelis Rebecca, Gabbett Michael T, Beswick Rachael, McInerney-Leo Aideen M, Driscoll Carlie, Liddle Karen

Abstract excerpt

GJB2 was originally identified in severe, non-syndromic sensorineural hearing loss (SNHL), but was subsequently associated with mild and moderate SNHL. Given the increasing utilisation of genetic testing pre-conceptually, prenatally, and neonatally, it is crucial to understand genotype-phenotype correlations. This study evaluated the nature and frequency of GJB2 variants in an Australian paediatric population...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 38486023
DOI: 10.1038/s41431-024-01584-0
PMCID: PMC11840006

Genes

GJB2
GJB6

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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