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Article

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.

Human molecular genetics - 15 Dec 2003

Ahmed Zubair M, Riazuddin Saima, Ahmad Jamil, Bernstein Steve L, Guo Yan, Sabar Muhammad F, Sieving Paul, Riazuddin Sheikh, Griffith Andrew J, Friedman Thomas B, Belyantseva Inna A, Wilcox Edward R

Abstract excerpt

Recessive splice site and nonsense mutations of PCDH15, encoding protocadherin 15, are known to cause deafness and retinitis pigmentosa in Usher syndrome type 1F (USH1F). Here we report that non-syndromic recessive hearing loss (DFNB23) is caused by missense mutations of PCDH15. This suggests a g...

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Source

Identifiers

PMID: 14570705
DOI: 10.1093/hmg/ddg358

Genes

PCDH15

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14570705-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.PMID 14570705Read ↗

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