Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

ABSTRACT:

Purpose

Usher syndrome type II (USH2) is the most common form of Usher syndrome, an autosomal recessive disorder characterized by moderate to severe hearing loss, postpuberal onset of retinitis pigmentosa (RP), and normal vestibular function. Mutations in the USH2A gene have been shown to be responsible for most cases of USH2. To further elucidate the role of USH2A in USH2, mutation screening was undertaken in three Chinese families with USH2.

Methods

Three unrelated Chinese families, consisting of six patients and 10 unaffected relatives, were examined clinically, and 100 normal Chinese individuals served as controls. Genomic DNA was extracted from the venous blood of all participants. The coding region (exons 2-72), including the intron-exon boundary of USH2A, was amplifie

SUBMITTER: Dai H 

PROVIDER: S-EPMC2584772 | biostudies-literature | 2008

REPOSITORIES: biostudies-literature