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

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

doi:10.1167/iovs.13-13827

Scientific article

English

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

ContributorsVillanueva, Adda; Willer, Jason R; Bryois, Julien; Dermitzakis, Emmanouil; Katsanis, Nicholas; Davis, Erica E

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

Affiliation entities

Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement

Research groups

Population Genomics and Genetics of Complex Traits (892)

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

Article (Published version)

Identifiers

PID : unige:90270
DOI : 10.1167/iovs.13-13827
PMID : 24595387

Journal ISSN0146-0404

472views

282downloads

Creation23/11/2016 11:43:00

First validation23/11/2016 11:43:00

Update15/03/2023 01:09:30

Status update15/03/2023 01:09:30

Last indexation31/10/2024 05:34:38

Archive ouverte UNIGE

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

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.

Technical informations