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Article

Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.

Human genetics - 1 Feb 2009

Liu Xue-Zhong, Yuan Yongyi, Yan Denise, Ding Emilie Hong, Ouyang Xiao Mei, Fei Yu, Tang Wenxue, Yuan Huijun, Chang Qing, Du Li Lin, Zhang Xin, Wang Guojian, Ahmad Shoeb, Kang Dong Yang, Lin Xi, Dai Pu

Abstract excerpt

Mutations in the genes coding for connexin 26 (Cx26) and connexin 31 (Cx31) cause non-syndromic deafness. Here, we provide evidence that mutations at these two connexin genes can interact to cause hearing loss in digenic heterozygotes in humans. We have screened 108 GJB2 heterozygous Chinese patients for mutations in GJB3 by sequencing. We have excluded the possibility that mutations in exon 1 of GJB2 and the...

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Source

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Identifiers

PMID: 19050930
DOI: 10.1007/s00439-008-0602-9
PMCID: PMC2737700

Genes

GJB2
GJB3
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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