Journal Article

Mutations in the novel protocadherin <i>PCDH15</i> cause Usher syndrome type 1F

Kumar N. Alagramam, Huijun Yuan, Markus H. Kuehn, Crystal L. Murcia, Sigrid Wayne, C.R. Srikumari Srisailpathy, R. Brian Lowry, Russell Knaus, Lut Van Laer, F.P. Bernier, Stuart Schwartz, Charles Lee, Cynthia C. Morton, Robert F. Mullins, Arabandi Ramesh, Guy Van Camp, Gregory S. Hagemen, Richard P. Woychik and Richard J.H. Smith

in Human Molecular Genetics

Volume 10, issue 16, pages 1709-1718
Published in print August 2001 | ISSN: 0964-6906
Published online August 2001 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/10.16.1709
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

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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 family and a nonsense mutation in exon 2 in the second. Consistent with the phenotypes observed in these families, we demonstrated expression of PCDH15 in the retina and cochlea by RT–PCR and immunohistochemistry. This report shows that protocadherins are essential for maintenance of normal retinal and cochlear function.

Journal Article.  5072 words.  Illustrated.

Subjects: Genetics and Genomics

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