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Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of photoreceptor function and contributes significantly to the etiology of blindness globally but especially in the industrialized world. The extreme locus and allelic heterogeneity of these disorders poses a major...

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Autores principales: Abu-Safieh, Leen, Alrashed, May, Anazi, Shamsa, Alkuraya, Hisham, Khan, Arif O., Al-Owain, Mohammed, Al-Zahrani, Jawahir, Al-Abdi, Lama, Hashem, Mais, Al-Tarimi, Salwa, Sebai, Mohammed-Adeeb, Shamia, Ahmed, Ray-zack, Mohamed D., Nassan, Malik, Al-Hassnan, Zuhair N., Rahbeeni, Zuhair, Waheeb, Saad, Alkharashi, Abdullah, Abboud, Emad, Al-Hazzaa, Selwa A.F., Alkuraya, Fowzan S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3561865/
https://www.ncbi.nlm.nih.gov/pubmed/23105016
http://dx.doi.org/10.1101/gr.144105.112
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author Abu-Safieh, Leen
Alrashed, May
Anazi, Shamsa
Alkuraya, Hisham
Khan, Arif O.
Al-Owain, Mohammed
Al-Zahrani, Jawahir
Al-Abdi, Lama
Hashem, Mais
Al-Tarimi, Salwa
Sebai, Mohammed-Adeeb
Shamia, Ahmed
Ray-zack, Mohamed D.
Nassan, Malik
Al-Hassnan, Zuhair N.
Rahbeeni, Zuhair
Waheeb, Saad
Alkharashi, Abdullah
Abboud, Emad
Al-Hazzaa, Selwa A.F.
Alkuraya, Fowzan S.
author_facet Abu-Safieh, Leen
Alrashed, May
Anazi, Shamsa
Alkuraya, Hisham
Khan, Arif O.
Al-Owain, Mohammed
Al-Zahrani, Jawahir
Al-Abdi, Lama
Hashem, Mais
Al-Tarimi, Salwa
Sebai, Mohammed-Adeeb
Shamia, Ahmed
Ray-zack, Mohamed D.
Nassan, Malik
Al-Hassnan, Zuhair N.
Rahbeeni, Zuhair
Waheeb, Saad
Alkharashi, Abdullah
Abboud, Emad
Al-Hazzaa, Selwa A.F.
Alkuraya, Fowzan S.
author_sort Abu-Safieh, Leen
collection PubMed
description Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of photoreceptor function and contributes significantly to the etiology of blindness globally but especially in the industrialized world. The extreme locus and allelic heterogeneity of these disorders poses a major diagnostic challenge and often impedes the ability to provide a molecular diagnosis that can inform counseling and gene-specific treatment strategies. In a large cohort of nearly 150 RD families, we used genomic approaches in the form of autozygome-guided mutation analysis and exome sequencing to identify the likely causative genetic lesion in the majority of cases. Additionally, our study revealed six novel candidate disease genes (C21orf2, EMC1, KIAA1549, GPR125, ACBD5, and DTHD1), two of which (ACBD5 and DTHD1) were observed in the context of syndromic forms of RD that are described for the first time.
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spelling pubmed-35618652013-08-01 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes Abu-Safieh, Leen Alrashed, May Anazi, Shamsa Alkuraya, Hisham Khan, Arif O. Al-Owain, Mohammed Al-Zahrani, Jawahir Al-Abdi, Lama Hashem, Mais Al-Tarimi, Salwa Sebai, Mohammed-Adeeb Shamia, Ahmed Ray-zack, Mohamed D. Nassan, Malik Al-Hassnan, Zuhair N. Rahbeeni, Zuhair Waheeb, Saad Alkharashi, Abdullah Abboud, Emad Al-Hazzaa, Selwa A.F. Alkuraya, Fowzan S. Genome Res Research Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of photoreceptor function and contributes significantly to the etiology of blindness globally but especially in the industrialized world. The extreme locus and allelic heterogeneity of these disorders poses a major diagnostic challenge and often impedes the ability to provide a molecular diagnosis that can inform counseling and gene-specific treatment strategies. In a large cohort of nearly 150 RD families, we used genomic approaches in the form of autozygome-guided mutation analysis and exome sequencing to identify the likely causative genetic lesion in the majority of cases. Additionally, our study revealed six novel candidate disease genes (C21orf2, EMC1, KIAA1549, GPR125, ACBD5, and DTHD1), two of which (ACBD5 and DTHD1) were observed in the context of syndromic forms of RD that are described for the first time. Cold Spring Harbor Laboratory Press 2013-02 /pmc/articles/PMC3561865/ /pubmed/23105016 http://dx.doi.org/10.1101/gr.144105.112 Text en © 2013, Published by Cold Spring Harbor Laboratory Press http://creativecommons.org/licenses/by-nc/3.0/ This article is distributed exclusively by Cold Spring Harbor Laboratory Press for the first six months after the full-issue publication date (see http://genome.cshlp.org/site/misc/terms.xhtml). After six months, it is available under a Creative Commons License (Attribution-NonCommercial 3.0 Unported License), as described at http://creativecommons.org/licenses/by-nc/3.0/.
spellingShingle Research
Abu-Safieh, Leen
Alrashed, May
Anazi, Shamsa
Alkuraya, Hisham
Khan, Arif O.
Al-Owain, Mohammed
Al-Zahrani, Jawahir
Al-Abdi, Lama
Hashem, Mais
Al-Tarimi, Salwa
Sebai, Mohammed-Adeeb
Shamia, Ahmed
Ray-zack, Mohamed D.
Nassan, Malik
Al-Hassnan, Zuhair N.
Rahbeeni, Zuhair
Waheeb, Saad
Alkharashi, Abdullah
Abboud, Emad
Al-Hazzaa, Selwa A.F.
Alkuraya, Fowzan S.
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
title Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
title_full Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
title_fullStr Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
title_full_unstemmed Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
title_short Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
title_sort autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3561865/
https://www.ncbi.nlm.nih.gov/pubmed/23105016
http://dx.doi.org/10.1101/gr.144105.112
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