Identification of a novel pathogenic missense mutation in PRPF31 using whole exome sequencing: a case report.

ABSTRACT:

Background

Variants in PRPF31, which encodes pre-mRNA processing factor 31 homolog, are known to cause autosomal-dominant retinitis pigmentosa (adRP) with incomplete penetrance. However, the majority of mutations cause null alleles, with only two proven pathogenic missense mutations. We identified a novel missense mutation in PRPF31 in a family with adRP.

Methods

We performed whole exome sequencing to identify possible pathogenic mutations in the proband of a family with adRP. Available affected family members had a full ophthalmological evaluation including kinetic and two-colour dark adapted static perimetry, electroretinography and multimodal imaging of the retina. Two patients had evaluations covering nearly 20 years. We carried out segregation analysis of

SUBMITTER: Bryant L 

PROVIDER: S-EPMC6582727 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature