The Molecular Basis of Retinal Dystrophies in Pakistan

Genes

Muhammad Imran Khan¹  Maleeha Azam¹  Muhammad Ajmal¹  Rob W. J. Collin²  Anneke I. den Hollander²  Frans P. M. Cremers¹ 

[1] Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad 45600, Pakistan; E-Mails:;Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, The Netherlands; E-Mails:

关键词: inherited retinal dystrophies;    homozygosity mapping;    genetic testing;   

DOI  :  10.3390/genes5010176

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2014 by the authors; licensee MDPI, Basel, Switzerland.