A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.

doi:10.1038/ejhg.2011.86

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.

European journal of human genetics : EJHG - 1 Oct 2011

Bowne Sara J, Humphries Marian M, Sullivan Lori S, Kenna Paul F, Tam Lawrence C S, Kiang Anna S, Campbell Matthew, Weinstock George M, Koboldt Daniel C, Ding Li, Fulton Robert S, Sodergren Erica J, Allman Denis, Millington-Ward Sophia, Palfi Arpad, McKee Alex, Blanton Susan H, Slifer Susan, Konidari Ioanna, Farrar G Jane, Daiger Stephen P, Humphries Peter

Abstract excerpt

Linkage testing using Affymetrix 6.0 SNP Arrays mapped the disease locus in TCD-G, an Irish family with autosomal dominant retinitis pigmentosa (adRP), to an 8.8 Mb region on 1p31. Of 50 known genes in the region, 11 candidates, including RPE65 and PDE4B, were sequenced using di-deoxy capillary electrophoresis. Simultaneously, a subset of family members was analyzed using Agilent SureSelect All Exome capture,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Choroideremia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to cis-trans-Isomerases

Share to Exome

Share to Eye Proteins

Share to Genes, Dominant

Share to HeLa Cells

Share to Ireland

Share to Retinitis Pigmentosa

Source

Open in PubMed Open full text

Identifiers

PMID: 21654732
DOI: 10.1038/ejhg.2011.86
PMCID: PMC3190249

Genes

RPE65
SDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.PMID 21654732Read ↗

Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.Semantic proximity Read ↗

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individualsSemantic proximity Read ↗

RPE 65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in ChinaSemantic proximity Read ↗

Discovery of rare and novel variants in inherited retinal disorders: Exome sequencing analysis of six Iranian families.Semantic proximity Read ↗

Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.Semantic proximity Read ↗

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration: A study from a tertiary eye care center in Brazil.Semantic proximity Read ↗

Compound heterozygous RPE65 mutations associated with an early onset autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients.Semantic proximity Read ↗

A novel dominant RPE65-related retinopathy is caused by p.(E519K), a founder variant of Flemish originSemantic proximity Read ↗

The clinical features of retinal disease due to a dominant mutation in RPE65.Semantic proximity Read ↗

RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India.Semantic proximity Read ↗

A heterozygous pathogenic RPE65 variant phenocopies a mitochondrial retinopathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.