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The Molecular Basis of Retinal Dystrophies in Pakistan

The customary consanguineous nuptials in Pakistan underlie the frequent occurrence of autosomal recessive inherited disorders, including retinal dystrophy (RD). In many studies, homozygosity mapping has been shown to be successful in mapping susceptibility loci for autosomal recessive inherited dise...

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Autores principales: Khan, Muhammad Imran, Azam, Maleeha, Ajmal, Muhammad, Collin, Rob W. J., den Hollander, Anneke I., Cremers, Frans P. M., Qamar, Raheel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978518/
https://www.ncbi.nlm.nih.gov/pubmed/24705292
http://dx.doi.org/10.3390/genes5010176
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author Khan, Muhammad Imran
Azam, Maleeha
Ajmal, Muhammad
Collin, Rob W. J.
den Hollander, Anneke I.
Cremers, Frans P. M.
Qamar, Raheel
author_facet Khan, Muhammad Imran
Azam, Maleeha
Ajmal, Muhammad
Collin, Rob W. J.
den Hollander, Anneke I.
Cremers, Frans P. M.
Qamar, Raheel
author_sort Khan, Muhammad Imran
collection PubMed
description The customary consanguineous nuptials in Pakistan underlie the frequent occurrence of autosomal recessive inherited disorders, including retinal dystrophy (RD). In many studies, homozygosity mapping has been shown to be successful in mapping susceptibility loci for autosomal recessive inherited disease. RDs are the most frequent cause of inherited blindness worldwide. To date there is no comprehensive genetic overview of different RDs in Pakistan. In this review, genetic data of syndromic and non-syndromic RD families from Pakistan has been collected. Out of the 132 genes known to be involved in non-syndromic RD, 35 different genes have been reported to be mutated in families of Pakistani origin. In the Pakistani RD families 90% of the mutations causing non-syndromic RD and all mutations causing syndromic forms of the disease have not been reported in other populations. Based on the current inventory of all Pakistani RD-associated gene defects, a cost-efficient allele-specific analysis of 11 RD-associated variants is proposed, which may capture up to 35% of the genetic causes of retinal dystrophy in Pakistan.
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spelling pubmed-39785182014-04-08 The Molecular Basis of Retinal Dystrophies in Pakistan Khan, Muhammad Imran Azam, Maleeha Ajmal, Muhammad Collin, Rob W. J. den Hollander, Anneke I. Cremers, Frans P. M. Qamar, Raheel Genes (Basel) Review The customary consanguineous nuptials in Pakistan underlie the frequent occurrence of autosomal recessive inherited disorders, including retinal dystrophy (RD). In many studies, homozygosity mapping has been shown to be successful in mapping susceptibility loci for autosomal recessive inherited disease. RDs are the most frequent cause of inherited blindness worldwide. To date there is no comprehensive genetic overview of different RDs in Pakistan. In this review, genetic data of syndromic and non-syndromic RD families from Pakistan has been collected. Out of the 132 genes known to be involved in non-syndromic RD, 35 different genes have been reported to be mutated in families of Pakistani origin. In the Pakistani RD families 90% of the mutations causing non-syndromic RD and all mutations causing syndromic forms of the disease have not been reported in other populations. Based on the current inventory of all Pakistani RD-associated gene defects, a cost-efficient allele-specific analysis of 11 RD-associated variants is proposed, which may capture up to 35% of the genetic causes of retinal dystrophy in Pakistan. MDPI 2014-03-11 /pmc/articles/PMC3978518/ /pubmed/24705292 http://dx.doi.org/10.3390/genes5010176 Text en © 2014 by the authors; licensee MDPI, Basel, Switzerland. http://creativecommons.org/licenses/by/3.0/ This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/).
spellingShingle Review
Khan, Muhammad Imran
Azam, Maleeha
Ajmal, Muhammad
Collin, Rob W. J.
den Hollander, Anneke I.
Cremers, Frans P. M.
Qamar, Raheel
The Molecular Basis of Retinal Dystrophies in Pakistan
title The Molecular Basis of Retinal Dystrophies in Pakistan
title_full The Molecular Basis of Retinal Dystrophies in Pakistan
title_fullStr The Molecular Basis of Retinal Dystrophies in Pakistan
title_full_unstemmed The Molecular Basis of Retinal Dystrophies in Pakistan
title_short The Molecular Basis of Retinal Dystrophies in Pakistan
title_sort molecular basis of retinal dystrophies in pakistan
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978518/
https://www.ncbi.nlm.nih.gov/pubmed/24705292
http://dx.doi.org/10.3390/genes5010176
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