Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31.

ABSTRACT:

Purpose

Mutations at some retinitis pigmentosa (RP) loci are associated with variable penetrance and expressivity, exacerbating diagnostic challenges. The purpose of this study was to dissect the genetic underpinnings of nonsyndromic RP with variable age of onset in a large Mexican family.

Methods

We ascertained members of a large, multigenerational pedigree using a complete ophthalmic examination. We performed whole exome sequencing on two affected first cousins, an obligate carrier, and a married-in spouse. Confirmatory sequencing of candidate variants was performed in the entire pedigree, as well as genotyping and mRNA studies to investigate expression changes in the causal locus.

Results

We identified a 14-base pair (bp) deletion in PRPF31, a gene implicated previ

SUBMITTER: Villanueva A 

PROVIDER: S-EPMC3979517 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature