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

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.