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Article

Mutation in gap and tight junctions in patients with non-syndromic hearing loss.

Biochemical and biophysical research communications - 17 Jul 2009

Belguith Hanen, Tlili Abedelaziz, Dhouib Houria, Ben Rebeh Imen, Lahmar Imed, Charfeddine Ilhem, Driss Nabil, Ghorbel Abdelmonem, Ayadi Hammadi, Masmoudi Saber

Abstract excerpt

Biallelic mutations in the GJB2, GJB3, GJB6 and CLDN14 genes have been implicated in autosomal recessive non-syndromic hearing impairment (ARNSHI). Moreover, a large number of GJB2 heterozygous patients was reported. The phenotype was in partly justified by the occurrence of two deletions including GJB6. We analysed GJB2, GJB6, GJB3 and CLDN14 in 102 Tunisian patients with ARNSHI. The deletions del(GJB6-D13S1830)...

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Identifiers

PMID: 19254696
DOI: 10.1016/j.bbrc.2009.02.125

Genes

GJB6
GJB2
CLDN14
GJB3

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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