Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies.
Details
Serval ID
serval:BIB_676CA127081C
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies.
Journal
Scientific reports
ISSN
2045-2322 (Electronic)
ISSN-L
2045-2322
Publication state
Published
Issued date
10/11/2020
Peer-reviewed
Oui
Volume
10
Number
1
Pages
19413
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: epublish
Publication Status: epublish
Abstract
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.
Keywords
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
Yes
Create date
16/11/2020 14:18
Last modification date
08/08/2024 6:34