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Scientific article
Open access
English

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

Published inInvestigative ophthalmology & visual science, vol. 55, no. 4, p. 2121-2129
Publication date2014
Abstract

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.

Keywords
  • Adolescent
  • Adult
  • Alleles
  • Child
  • Exome/genetics
  • Eye Proteins/genetics/metabolism
  • Female
  • Genes, Dominant
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Phenotype
  • Polymerase Chain Reaction
  • RNA/genetics
  • RNA Splicing
  • Retinitis Pigmentosa/diagnosis/genetics/metabolism
  • Sequence Deletion
  • Young Adult
Citation (ISO format)
VILLANUEVA, Adda et al. Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31. In: Investigative ophthalmology & visual science, 2014, vol. 55, n° 4, p. 2121–2129. doi: 10.1167/iovs.13-13827
Main files (1)
Article (Published version)
accessLevelPublic
Identifiers
ISSN of the journal0146-0404
392views
173downloads

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