Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

Am J Hum Genet. 2001 Jul;69(1):25-34. doi: 10.1086/321277. Epub 2001 Jun 7.

Abstract

Human chromosome 10q21-22 harbors USH1F in a region of conserved synteny to mouse chromosome 10. This region of mouse chromosome 10 contains Pcdh15, encoding a protocadherin gene that is mutated in ames waltzer and causes deafness and vestibular dysfunction. Here we report two mutations of protocadherin 15 (PCDH15) found in two families segregating Usher syndrome type 1F. A Northern blot probed with the PCDH15 cytoplasmic domain showed expression in the retina, consistent with its pathogenetic role in the retinitis pigmentosa associated with USH1F.

Publication types

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

MeSH terms

  • Aged
  • Alleles
  • Animals
  • Base Sequence
  • Cadherins / chemistry
  • Cadherins / genetics*
  • Chromosomes, Human, Pair 10 / genetics*
  • DNA Mutational Analysis
  • Deafness / genetics*
  • Female
  • Haplotypes
  • Humans
  • Lod Score
  • Male
  • Mice
  • Mice, Mutant Strains
  • Middle Aged
  • Mutation / genetics*
  • Pakistan
  • Pedigree
  • Phenotype
  • Physical Chromosome Mapping
  • Protein Precursors / chemistry
  • Protein Precursors / genetics*
  • Protein Structure, Tertiary
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Retina / metabolism
  • Retinitis Pigmentosa / genetics*
  • Syndrome

Substances

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