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Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families

PURPOSE: Inherited retinal diseases (IRDs) are clinically and genetically heterogeneous showing progressive retinal cell death which results in vision loss. IRDs include a wide spectrum of disorders, such as retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), cone-rod dystrophy (CRD), and S...

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Autores principales: Tayebi, Naeimeh, Akinrinade, Oyediran, Khan, Muhammad Imran, Hejazifar, Arash, Dehghani, Alireza, Cremers, Frans P.M., Akhlaghi, Mohammadreza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377375/
https://www.ncbi.nlm.nih.gov/pubmed/30820146
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author Tayebi, Naeimeh
Akinrinade, Oyediran
Khan, Muhammad Imran
Hejazifar, Arash
Dehghani, Alireza
Cremers, Frans P.M.
Akhlaghi, Mohammadreza
author_facet Tayebi, Naeimeh
Akinrinade, Oyediran
Khan, Muhammad Imran
Hejazifar, Arash
Dehghani, Alireza
Cremers, Frans P.M.
Akhlaghi, Mohammadreza
author_sort Tayebi, Naeimeh
collection PubMed
description PURPOSE: Inherited retinal diseases (IRDs) are clinically and genetically heterogeneous showing progressive retinal cell death which results in vision loss. IRDs include a wide spectrum of disorders, such as retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), cone-rod dystrophy (CRD), and Stargardt disease (STGD1). METHODS: In this study, we performed targeted next-generation sequencing based on molecular inversion probes (MIPs) that allowed the sequence analysis of 108 IRD-associated genes in 50 Iranian IRD probands. RESULTS: The sequencing and variant filtering led to the identification of putative pathogenic variants in 36 out of 50 (72%) probands. Among 36 unique variants, we identified 20 novel variants in 15 genes. Four out of 36 probands carry compound heterozygous variants, and 32 probands carry homozygous variants. CONCLUSIONS: Employing a cost-effective targeted next-generation sequencing procedure, we identified the genetic causes of different retinal disorders in the majority of Iranian families in this study.
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spelling pubmed-63773752019-02-28 Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families Tayebi, Naeimeh Akinrinade, Oyediran Khan, Muhammad Imran Hejazifar, Arash Dehghani, Alireza Cremers, Frans P.M. Akhlaghi, Mohammadreza Mol Vis Research Article PURPOSE: Inherited retinal diseases (IRDs) are clinically and genetically heterogeneous showing progressive retinal cell death which results in vision loss. IRDs include a wide spectrum of disorders, such as retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), cone-rod dystrophy (CRD), and Stargardt disease (STGD1). METHODS: In this study, we performed targeted next-generation sequencing based on molecular inversion probes (MIPs) that allowed the sequence analysis of 108 IRD-associated genes in 50 Iranian IRD probands. RESULTS: The sequencing and variant filtering led to the identification of putative pathogenic variants in 36 out of 50 (72%) probands. Among 36 unique variants, we identified 20 novel variants in 15 genes. Four out of 36 probands carry compound heterozygous variants, and 32 probands carry homozygous variants. CONCLUSIONS: Employing a cost-effective targeted next-generation sequencing procedure, we identified the genetic causes of different retinal disorders in the majority of Iranian families in this study. Molecular Vision 2019-02-08 /pmc/articles/PMC6377375/ /pubmed/30820146 Text en Copyright © 2019 Molecular Vision. http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited, used for non-commercial purposes, and is not altered or transformed.
spellingShingle Research Article
Tayebi, Naeimeh
Akinrinade, Oyediran
Khan, Muhammad Imran
Hejazifar, Arash
Dehghani, Alireza
Cremers, Frans P.M.
Akhlaghi, Mohammadreza
Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families
title Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families
title_full Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families
title_fullStr Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families
title_full_unstemmed Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families
title_short Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families
title_sort targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in iranian families
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377375/
https://www.ncbi.nlm.nih.gov/pubmed/30820146
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