title: Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.
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.
authors.affiliation: Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD, USA.
authors.forename: Z M
authors.initials: ZM
authors.lastname: Ahmed
authors.forename: S
authors.initials: S
authors.lastname: Riazuddin
authors.forename: S L
authors.initials: SL
authors.lastname: Bernstein
authors.forename: Z
authors.initials: Z
authors.lastname: Ahmed
authors.forename: S
authors.initials: S
authors.lastname: Khan
authors.forename: A J
authors.initials: AJ
authors.lastname: Griffith
authors.forename: R J
authors.initials: RJ
authors.lastname: Morell
authors.forename: T B
authors.initials: TB
authors.lastname: Friedman
authors.forename: S
authors.initials: S
authors.lastname: Riazuddin
authors.forename: E R
authors.initials: ER
authors.lastname: Wilcox
mesh_terms: D000368:Aged; D000483:Alleles; D000818:Animals; D001483:Base Sequence; D000070585:Cadherin Related Proteins; D015820:Cadherins / Q000737:chemistry / Q000235:genetics*; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D051379:Mice; D008817:Mice, Mutant Strains; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010154:Pakistan; D010375:Pedigree; D010641:Phenotype; D020161:Physical Chromosome Mapping; D011498:Protein Precursors / Q000737:chemistry / Q000235:genetics*; D017434:Protein Structure, Tertiary; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D012160:Retina / Q000378:metabolism; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013577:Syndrome
chemical_list: C418976:CDHR15 protein, mouse; C498835:CDHR15, human; D000070585:Cadherin Related Proteins; D015820:Cadherins; D011498:Protein Precursors; D012333:RNA, Messenger