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Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.

Experimental eye research - 1 Mar 2020

Wheway Gabrielle, Douglas Andrew, Baralle Diana, Guillot Elsa

Abstract excerpt

Pathogenic variants in pre-messenger RNA (pre-mRNA) splicing factor 31, PRPF31, are the second most common genetic cause of autosomal dominant retinitis pigmentosa (adRP) in most populations. This remains a completely untreatable and incurable form of blindness, and it can be difficult to predict the clinical course of disease. In order to design appropriate targeted therapies, a thorough understanding of the...

Topics

DNA Mutational Analysis
Electroretinography
Eye Proteins
Female
Genetic Association Studies
Genetic Therapy
Humans
Male
Mutation
Oligonucleotides, Antisense
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA Splicing

Retinitis Pigmentosa

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Open in PubMed Open full text

Identifiers

PMID: 32014492
DOI: 10.1016/j.exer.2020.107950
PMCID: PMC7065041

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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