Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.

ABSTRACT:

Purpose

Mutations in 60 known genes were previously identified by exome sequencing in 79 of 157 families with retinitis pigmentosa (RP). This study analyzed variants in 129 genes associated with other forms of hereditary retinal dystrophy in the same cohort.

Methods

Apart from the 73 genes previously analyzed, a further 129 genes responsible for other forms of hereditary retinal dystrophy were selected based on RetNet. Variants in the 129 genes determined by whole exome sequencing were selected and filtered by bioinformatics analysis. Candidate variants were confirmed by Sanger sequencing and validated by analysis of available family members and controls.

Results

A total of 90 candidate variants were present in the 129 genes. Sanger sequencing confirmed 83 of the 90 v

SUBMITTER: Xu Y 

PROVIDER: S-EPMC4415588 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature