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A Homozygous c.2536G-to-A Mutation in CRB1 Gene Manifesting Autosomal Recessive Retinitis Pigmentosa in a Large Consanguineous Kashmiri Family

A Homozygous c.2536G-to-A Mutation in CRB1 Gene Manifesting Autosomal Recessive Retinitis Pigmentosa in a Large Consanguineous Kashmiri Family

Zahid Latif1,*, Kathrin Blasius2-4, Tufail Hussain Tahir7, Muhammad Nasim Khan1, Ghazanfar Ali5, Ansar Ahmed Abbasi6, Abdul Rauf1, Hao Hu8 and Angela M. Kaindl2,3,4

1Department of Zoology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan
2Institute of Cell Biology and Neurobiology, Charité – Universitätsmedizin Berlin, Berlin, Germany
3Berlin Institute of Health (BIH), Berlin, Germany
4Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité –Universitätsmedizin Berlin, Berlin, Germany
5Department of Biotechnology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan
6Department of Zoology, Mirpur University of Science and Technology, Mirpur, P.O. Box 10250, Mirpur, Pakistan
7Poonch Medical College, P.O. Box 12350, Rawalakot, Azad Kashmir, Pakistan
8Guangzhou Women and Children’s Medical Center, Guangzhou, China

Zahid Latif and Kathrin Blasius contributed equally to this article.

*      Corresponding author: zahidlatif83@gmail.com

 

ABSTRACT

Retinitis pigmentosa (RP) is the condition of visual impairment which has most feared impact on blind individuals and family. As the cheerful life is made possible by illumination of sight similarly on opposite, blindness snatch this beauty of life and push the sufferers to unending darkness which also has a negative social and economic wellbeing impact on individual’s life. In society, the negative impact of visual impairment is the rejection and exclusion from all healthy activities of life. Patients suffering with RP first experience nyctalopia which gradually progress to tunnel vision and ultimately masks with complete blindness. Autosomal recessive mode of inheritance which contributes 20-25% of total known cases of RP, is almost the result of inbreed union or cousin marriages. In this study, a large consanguineous family with 11 affected individuals was recruited from Azad Jammu and Kashmir which was analyzed through linkage mapping and confirmed by Sanger sequencing. This family showed a homozygous c.2536G>A mutation in CRB1 gene as an underlying pathogenic variant for non-syndromic autosomal recessive retinitis pigmentosa.
 

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Pakistan Journal of Zoology

October

Vol. 50, Iss. 5, Pages 1601-1998

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