Identification of candidate regions for a novel Usher syndrome type II locus.

ABSTRACT:

Purpose

Chronic diseases affecting the inner ear and the retina cause severe impairments to our communication systems. In more than half of the cases, Usher syndrome (USH) is the origin of these double defects. Patients with USH type II (USH2) have retinitis pigmentosa (RP) that develops during puberty, moderate to severe hearing impairment with downsloping pure-tone audiogram, and normal vestibular function. Four loci and three genes are known for USH2. In this study, we proposed to localize the gene responsible for USH2 in a consanguineous family of Tunisian origin.

Methods

Affected members underwent detailed ocular and audiologic characterization. One Tunisian family with USH2 and 45 healthy controls unrelated to the family were recruited. Two affected and six unaffected

SUBMITTER: Ben Rebeh I 

PROVIDER: S-EPMC2538493 | biostudies-literature | 2008 Sep

REPOSITORIES: biostudies-literature