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

doi:10.1167/iovs.13-13827

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Article

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

Investigative ophthalmology & visual science - 7 Apr 2014

Villanueva Adda, Willer Jason R, Bryois Julien, Dermitzakis Emmanouil T, Katsanis Nicholas, Davis Erica E

Abstract excerpt

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...

Topics

Adolescent
Adult
Alleles
Child
Exome
Eye Proteins
Female
Genes, Dominant
Genetic Predisposition to Disease
Genotype
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Pedigree

Phenotype

Polymerase Chain Reaction

RNA

RNA Splicing

Source

Open in PubMed Open full text

Identifiers

PMID: 24595387
DOI: 10.1167/iovs.13-13827
PMCID: PMC3979517

Genes

PRPF31

Provenance

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

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Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31.PMID 24595387Read ↗

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