CLARIN POLYPEPTIDES, POLYNUCLEOTIDES ENCODING SAME AND USES THEREOF IN DIAGNOSIS AND TREATMENT OF USHER'S SYNDROME

摘要

Methods and kits utilizing newly identified transcripts of the USH3A gene encoding for a novel Clarin family of proteins for diagnostic and/or therapeutic applications. The method, kits and compounds are used to screen and correct for defects in the novel Clarin family of proteins disclosed herein, for diagnosis of a predisposition to clinical Usher's syndrome. The present invention additionally provides for a method of correction of genetic defects resulting in clinical Usher's syndrome as a result of a sequence alteration or mutation in the novel sequences disclosed herein.