Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population.

ABSTRACT:

Objectives

USH2A encodes for usherin, a basement membrane protein in the inner ear and retina. USH2A can cause retinitis pigmentosa (RP) with or without hearing loss. The aim of this study was to detect USH2A mutations in a Chinese cohort of 75 small RP families and 10 Usher syndrome families.

Methods

We performed a direct Sanger sequencing analysis of the USH2A gene to identify mutations for this cohort.

Results

We identified a total of eight mutations in four of the 75 small RP families (5.3%) and two mutations in one of the 10 Usher families (10%); all families were detected to have compound heterozygous mutations. In families with nonsyndromic RP, we identified the compound heterozygous mutations p.Pro4818Leuand p.Leu2395Hisfs*19 in family No. 19114, p.Arg4493His

SUBMITTER: Huang L 

PROVIDER: S-EPMC6189035 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature