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

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...

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Autores principales: Salmaninejad, Arash, Bedoni, Nicola, Ravesh, Zeinab, Quinodoz, Mathieu, Shoeibi, Nasser, Mojarrad, Majid, Pasdar, Alireza, Rivolta, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
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Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7655865/
https://www.ncbi.nlm.nih.gov/pubmed/33173045
http://dx.doi.org/10.1038/s41598-020-75841-9
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author Salmaninejad, Arash
Bedoni, Nicola
Ravesh, Zeinab
Quinodoz, Mathieu
Shoeibi, Nasser
Mojarrad, Majid
Pasdar, Alireza
Rivolta, Carlo
author_facet Salmaninejad, Arash
Bedoni, Nicola
Ravesh, Zeinab
Quinodoz, Mathieu
Shoeibi, Nasser
Mojarrad, Majid
Pasdar, Alireza
Rivolta, Carlo
author_sort Salmaninejad, Arash
collection PubMed
description 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.
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spelling pubmed-76558652020-11-12 Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies Salmaninejad, Arash Bedoni, Nicola Ravesh, Zeinab Quinodoz, Mathieu Shoeibi, Nasser Mojarrad, Majid Pasdar, Alireza Rivolta, Carlo Sci Rep Article 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. Nature Publishing Group UK 2020-11-10 /pmc/articles/PMC7655865/ /pubmed/33173045 http://dx.doi.org/10.1038/s41598-020-75841-9 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Salmaninejad, Arash
Bedoni, Nicola
Ravesh, Zeinab
Quinodoz, Mathieu
Shoeibi, Nasser
Mojarrad, Majid
Pasdar, Alireza
Rivolta, Carlo
Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies
title Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies
title_full Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies
title_fullStr Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies
title_full_unstemmed Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies
title_short Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies
title_sort whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous iranian families with inherited retinal dystrophies
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7655865/
https://www.ncbi.nlm.nih.gov/pubmed/33173045
http://dx.doi.org/10.1038/s41598-020-75841-9
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