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Article

Novel mutations in the connexin43 (GJA1) and GJA1 pseudogene may contribute to nonsyndromic hearing loss.

Human genetics - 1 Mar 2010

Hong Hui-Mei, Yang Jiann-Jou, Shieh Jia-Ching, Lin Mei-Ling, Li Mei-Ling, Li Shuan-Yow

Abstract excerpt

Connexins (CXs), a large family of membrane proteins, are key components of gap junction channels. Among a cohort of patients with nonsyndromic hearing loss, we have recently identified three novel missense mutations in the GJA1 gene and GJA1 pseudogene (rhoGJA1) as likely being causally related to hearing loss. However, the functional alteration of CX43 caused by the mutations of GJA1 and rhoGJA1 gene remains...

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Source

Identifiers

PMID: 20130915
DOI: 10.1007/s00439-010-0791-x

Genes

GJA1

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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