Article
Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.
American journal of human genetics - 1 Dec 2000
Astuto L M, Weston M D, Carney C A, Hoover D M, Cremers C W, Wagenaar M, Moller C, Smith R J, Pieke-Dahl S, Greenberg J, Ramesar R, Jacobson S G, Ayuso C, Heckenlively J R, Tamayo M, Gorin M B, Reardon W, Kimberling W J
Abstract excerpt
Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A-USH1F have been reported. The MYO7A gene is responsible for USH1B, the most common subtype. In our analysis, 151 families with Usher I were screened by linkage and mutation analysis. MYO7A mutations were identified in 64 families with Usher I....
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