Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.

ABSTRACT:

Purpose

Mutations in ARL2BP, encoding ADP-ribosylation factor-like 2 binding protein, have recently been implicated as a cause of autosomal recessive retinitis pigmentosa (arRP), with three homozygous variants identified to date. In this study, we performed next-generation sequencing to reveal additional arRP cases associated with ARL2BP variants.

Methods

Whole-genome sequencing (WGS) or whole-exome sequencing (WES) was performed in 1,051 unrelated individuals recruited for the UK Inherited Retinal Disease Consortium and NIHR-BioResource Rare Diseases research studies. Sanger sequencing was used to validate the next-generation sequencing data, and reverse transcriptase (RT)-PCR analysis was performed on RNA extracted from blood from affected individuals to test

SUBMITTER: Fiorentino A 

PROVIDER: S-EPMC6128700 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature