Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa.

ABSTRACT:

Purpose

Seven genes involved in precursor mRNA (pre-mRNA) splicing have been implicated in autosomal dominant retinitis pigmentosa (adRP). We sought to detect mutations in all seven genes in Chinese families with RP, to characterize the relevant phenotypes, and to evaluate the prevalence of mutations in splicing genes in patients with adRP.

Methods

Six unrelated families from our adRP cohort (42 families) and two additional families with RP with uncertain inheritance mode were clinically characterized in the present study. Targeted sequence capture with next-generation massively parallel sequencing (NGS) was performed to screen mutations in 189 genes including all seven pre-mRNA splicing genes associated with adRP. Variants detected with NGS were filtered with bioinformatics

SUBMITTER: Pan X 

PROVIDER: S-EPMC4043610 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature