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Genes 2014, 5(1), 176-195; doi:10.3390/genes5010176

The Molecular Basis of Retinal Dystrophies in Pakistan

1,2,3,†,*  and 1,5,†,*
1 Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad 45600, Pakistan 2 Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, The Netherlands 3 Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6500 HB, The Netherlands 4 Department of Ophthalmology, Radboud University Medical Center, Nijmegen 6525 EX, The Netherlands 5 Al-Nafees Medical College & Hospital, Isra University, Islamabad 45600, Pakistan These authors contributed equally to this work.
* Authors to whom correspondence should be addressed.
Received: 21 January 2014 / Revised: 14 February 2014 / Accepted: 14 February 2014 / Published: 11 March 2014
(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
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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.
Keywords: inherited retinal dystrophies; homozygosity mapping; genetic testing inherited retinal dystrophies; homozygosity mapping; genetic testing
This is an open access article distributed under the Creative Commons Attribution License (CC BY) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Khan, M.I.; Azam, M.; Ajmal, M.; Collin, R.W.J.; den Hollander, A.I.; Cremers, F.P.M.; Qamar, R. The Molecular Basis of Retinal Dystrophies in Pakistan. Genes 2014, 5, 176-195.

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