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

Hum Mol Genet. 2003 Dec 15;12(24):3215-23. doi: 10.1093/hmg/ddg358. Epub 2003 Oct 21.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Aged
  • Alleles
  • Animals
  • Base Sequence
  • Cadherins / genetics
  • Cadherins / metabolism*
  • Cochlea / metabolism*
  • Deafness / genetics
  • Epithelium / metabolism
  • Genes, Recessive
  • Genetic Linkage
  • Haplorhini
  • Humans
  • Lod Score
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mutation, Missense
  • Pedigree
  • Protein Precursors / genetics
  • Protein Precursors / metabolism*
  • Retina / metabolism*
  • Retinitis Pigmentosa / genetics

Substances

  • Cadherins
  • PCDH15 protein, human
  • Pcdh15 protein, mouse
  • Protein Precursors