Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F
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- 1 July 2001
- journal article
- research article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 69 (1), 25-34
- https://doi.org/10.1086/321277
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.Keywords
This publication has 51 references indexed in Scilit:
- Initial sequencing and analysis of the human genomeNature, 2001
- SMART: a web-based tool for the study of genetically mobile domainsNucleic Acids Research, 2000
- Mutations in the myosin VIIA gene cause non-syndromic recessive deafnessNature Genetics, 1997
- Prediction of complete gene structures in human genomic DNAJournal of Molecular Biology, 1997
- A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21Human Molecular Genetics, 1997
- Faster Linkage Analysis Computations for Pedigrees with Loops or Unused AllelesHuman Heredity, 1996
- Defective myosin VIIA gene responsible for Usher syndrome type IBNature, 1995
- Linkage of usher syndrome type I gene (USH1B) to the long arm of chromosome 11Genomics, 1992
- A gene for usher syndrome type I (USH1A) maps to chromosome 14qGenomics, 1992
- Localization of two genes for usher syndrome type I to chromosome 11Genomics, 1992