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Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome.

Molecular vision - 30 Aug 2007

Ebermann Inga, Wilke Robert, Lauhoff Thomas, Lübben Dirk, Zrenner Eberhart, Bolz Hanno Jörn

Abstract excerpt

PURPOSE: To identify the genetic defect in a German family with Usher syndrome (USH) and linkage to the USH3A locus. METHODS: DNA samples of five family members (both parents and the three patients) were genotyped with polymorphic microsatellite markers specific for eight USH genes. Three affected family members underwent detailed ocular and audiologic characterization. RESULTS: Symptoms in the patients were...

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PMID: 17893653

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