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

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

Research output: Contribution to journalArticlepeer-review

197 Scopus citations

Abstract

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 genotype-phenotype correlation in which hypomorphic alleles cause non-syndromic hearing loss, while more severe mutations of this gene result in USH1F. We localized protocadherin 15 to inner ear hair cell stereocilia, and to retinal photoreceptors by immunocytochemistry. Our results further strengthen the importance of protocadherin 15 in the morphogenesis and cohesion of stereocilia bundles and retinal photoreceptor cell maintenance or function.

Original languageEnglish (US)
Pages (from-to)3215-3223
Number of pages9
JournalHuman molecular genetics
Volume12
Issue number24
DOIs
StatePublished - Dec 15 2003
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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