Article
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
Human molecular genetics - 1 Aug 2001
Alagramam K N, Yuan H, Kuehn M H, Murcia C L, Wayne S, Srisailpathy C R, Lowry R B, Knaus R, Van Laer L, Bernier F P, Schwartz S, Lee C, Morton C C, Mullins R F, Ramesh A, Van Camp G, Hageman G S, Woychik R P, Smith R J, Hagemen G S
Abstract excerpt
We have determined the molecular basis for Usher syndrome type 1F (USH1F) in two families segregating for this type of syndromic deafness. By fluorescence in situ hybridization, we placed the human homolog of the mouse protocadherin Pcdh15 in the linkage interval defined by the USH1F locus. We determined the genomic structure of this novel protocadherin, and found a single-base deletion in exon 10 in one USH1F...
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