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Article

Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.

Journal of human genetics - 1 Feb 2013

Bashir Zil-e-Huma, Latief Noreen, Belyantseva Inna A, Iqbal Farheena, Riazuddin S Amer, Amer Riazuddin Sheikh, Khan Shaheen N, Friedman Thomas B, Riazuddin Sheikh, Riazuddin Saima

Abstract excerpt

Human hereditary deafness at the DFNB29 locus on chromosome 21q22.1 is caused by recessive mutations of CLDN14, encoding claudin 14. This tight junction protein is tetramembrane spanning that localizes to the apical tight junctions of organ of Corti hair cells and in many other tissues. Typically, the DFNB29 phenotype is characterized by prelingual, bilateral, sensorineural hearing loss. The goal of this study...

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Identifiers

PMID: 23235333
DOI: 10.1038/jhg.2012.143
PMCID: PMC3596117

Genes

CLDN14

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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