Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

ABSTRACT:

Purpose

RAX2 encodes a homeobox-containing transcription factor, in which four monoallelic pathogenic variants have been described in autosomal dominant cone-dominated retinal disease.

Methods

Exome sequencing in a European cohort with inherited retinal disease (IRD) (n = 2086) was combined with protein structure modeling of RAX2 missense variants, bioinformatics analysis of deletion breakpoints, haplotyping of RAX2 variant c.335dup, and clinical assessment of biallelic RAX2-positive cases and carrier family members.

Results

Biallelic RAX2 sequence and structural variants were found in five unrelated European index cases, displaying nonsyndromic autosomal recessive retinitis pigmentosa (ARRP) with an age of onset ranging from childhood to the mid-40s (average mid-30s)

SUBMITTER: Van de Sompele S 

PROVIDER: S-EPMC6752271 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature