Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies.

Détails

Ressource 1Télécharger: 33173045_BIB_676CA127081C.pdf (2023.34 [Ko])
Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_676CA127081C
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies.
Périodique
Scientific reports
Auteur⸱e⸱s
Salmaninejad A., Bedoni N., Ravesh Z., Quinodoz M., Shoeibi N., Mojarrad M., Pasdar A., Rivolta C.
ISSN
2045-2322 (Electronic)
ISSN-L
2045-2322
Statut éditorial
Publié
Date de publication
10/11/2020
Peer-reviewed
Oui
Volume
10
Numéro
1
Pages
19413
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: epublish
Résumé
Inherited retinal dystrophies (IRDs), displaying pronounced genetic and clinical heterogeneity, comprise of a broad range of diseases characterized by progressive retinal cell death and gradual loss of vision. By the combined use of whole exome sequencing (WES), SNP-array and WES-based homozygosity mapping, as well as directed DNA sequencing (Sanger), we have identified nine pathogenic variants in six genes (ABCA4, RPE65, MERTK, USH2A, SPATA7, TULP1) in 10 consanguineous Iranian families. Six of the nine identified variants were novel, including a putative founder mutation in ABCA4 (c.3260A>G, p.Glu1087Gly), detected in two families from Northeastern Iran. Our findings provide additional information to the molecular pathology of IRDs in Iran, hopefully contributing to better genetic counselling and patient management in the respective families from this country.
Mots-clé
DNA Mutational Analysis/methods, Female, Genotype, Homozygote, Humans, Iran, Male, Mutation, Pedigree, Polymorphism, Single Nucleotide, Retinal Dystrophies/genetics, Sequence Analysis, DNA, Exome Sequencing/methods
Pubmed
Web of science
Open Access
Oui
Création de la notice
16/11/2020 14:18
Dernière modification de la notice
08/08/2024 6:34
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