A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.

ABSTRACT:

Background

Usher syndrome (USH) is a clinically and genetically heterogeneous disease. The three recognised clinical phenotypes (types I, II and III; USH1, USH2 and USH3) are caused by mutations in nine different genes. USH2C is characterised by moderate to severe hearing loss, retinitis pigmentosa and normal vestibular function. One earlier report describes mutations in GPR98 (VLGR1) in four families segregating this phenotype.

Objective

To detect the disease-causing mutation in an Iranian family segregating USH2C. In this family, five members had a phenotype compatible with Usher syndrome, and two others had nonsyndromic hearing loss.

Methods

Mutation analysis of all 90 coding exons of GPR98.

Results

Consistent with these clinical findings, the five subjects

SUBMITTER: Hilgert N 

PROVIDER: S-EPMC4432478 | biostudies-literature | 2009 Apr

REPOSITORIES: biostudies-literature