A novel intronic mutation of
Adult
Aged
Computational Biology
Cyclic Nucleotide Phosphodiesterases, Type 6
/ deficiency
Electroretinography
Evoked Potentials, Visual
/ physiology
Exons
Female
Founder Effect
Frameshift Mutation
Gene Expression
Genes, Recessive
Homozygote
Humans
Introns
Jews
Linkage Disequilibrium
Male
Middle Aged
RNA Splice Sites
Retina
/ diagnostic imaging
Retinitis Pigmentosa
/ diagnostic imaging
Siberia
/ ethnology
Tomography, Optical Coherence
Exome Sequencing
Journal
Molecular vision
ISSN: 1090-0535
Titre abrégé: Mol Vis
Pays: United States
ID NLM: 9605351
Informations de publication
Date de publication:
2019
2019
Historique:
received:
14
10
2018
accepted:
20
02
2019
entrez:
2
3
2019
pubmed:
2
3
2019
medline:
15
6
2019
Statut:
epublish
Résumé
To identify the genetic basis for retinitis pigmentosa (RP) in a cohort of Jewish patients from Caucasia. Patients underwent a detailed ophthalmic evaluation, including funduscopic examination, visual field testing, optical coherence tomography (OCT), and electrophysiological tests, electroretinography (ERG) and visual evoked potentials (VEP). Genetic analysis was performed with a combination of whole exome sequencing (WES) and Sanger sequencing. Bioinformatic analysis of the WES results was performed via a customized pipeline. Pathogenicity of the identified intronic variant was evaluated in silico using the web tool Human Splicing Finder, and in vitro, using a minigene-based splicing assay. Linkage disequilibrium (LD) analysis was used to demonstrate a founder effect, and the decay of LD over generations around the mutation in Caucasus Jewish chromosomes was modeled to estimate the age of the most recent common ancestor. In eight patients with RP from six unrelated families, all of Caucasus Jewish ancestry, we identified a novel homozygous intronic variant, located at position -9 of The
Substances chimiques
RNA Splice Sites
0
Cyclic Nucleotide Phosphodiesterases, Type 6
EC 3.1.4.35
PDE6B protein, human
EC 3.1.4.35
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
155-164Références
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