Targeted exome capture and sequencing identifies novel PRPF31 mutations in autosomal dominant retinitis pigmentosa in Chinese families.

ABSTRACT:

Objectives

To identify disease-causing mutations in two Chinese families with autosomal dominant retinitis pigmentosa (adRP).

Design

Prospective analysis.

Patients

Two Chinese adRP families underwent genetic diagnosis. A specific hereditary eye disease enrichment panel (HEDEP) based on targeted exome capture technology was used to collect the protein coding regions of targeted 371 hereditary eye disease genes; high throughput sequencing was done with the Illumina HiSeq 2000 platform. The identified variants were confirmed with Sanger sequencing.

Setting

All experiments were performed in a large laboratory specialising in genetic studies in the Department of Ophthalmology, Peking University Third Hospital.

Results

Two novel mutations, including one splice

SUBMITTER: Yang L 

PROVIDER: S-EPMC3822309 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature