A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews.

ABSTRACT:

Purpose

To identify the genetic basis for retinitis pigmentosa (RP) in a cohort of Jewish patients from Caucasia.

Methods

Patients underwent a detailed ophthalmic evaluation, including funduscopic examination, visual field testing, optical coherence tomography (OCT), and electrophysiological tests, electroretinography (ERG) and visual evoked potentials (VEP). Genetic analysis was performed with a combination of whole exome sequencing (WES) and Sanger sequencing. Bioinformatic analysis of the WES results was performed via a customized pipeline. Pathogenicity of the identified intronic variant was evaluated in silico using the web tool Human Splicing Finder, and in vitro, using a minigene-based splicing assay. Linkage disequilibrium (LD) analysis was used to demonstrate a foun

SUBMITTER: Tatour Y 

PROVIDER: S-EPMC6386512 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature