Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.

ABSTRACT:

Purpose

To define the molecular basis of retinal degeneration in consanguineous Pakistani pedigrees with early onset retinal degeneration.

Methods

A cohort of 277 individuals representing 26 pedigrees from the Punjab province of Pakistan was analyzed. Exomes were captured with commercial kits and sequenced on an Illumina HiSeq 2500. Candidate variants were identified using standard tools and analyzed using exomeSuite to detect all potentially pathogenic changes in genes implicated in retinal degeneration. Segregation analysis was performed by dideoxy sequencing and novel variants were additionally investigated for their presence in ethnicity-matched controls.

Results

We identified a total of nine causal mutations, including six novel variants in RPE65, LCA5, USH2A, CN

SUBMITTER: Maranhao B 

PROVIDER: S-EPMC4564165 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature