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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

 

Fig. 1.

Pedigree showing autosomal recessive mode of RP in the affected family.

Fig. 2.

Clinical presentation of three affected (IV:5, IV:6 and IV:7) individuals shown through close-up photographs of eyes.

Fig. 3.

Sanger sequence chromatogram of CRB1 gene of normal individual (III:7/mother). Chromatogram showed heterozygous carrier status for c.2536G>A mutation indicated with blue arrow.

Fig. 4.

Sanger sequence chromatogram of CRB1 gene of three blind patients (IV:5, IV:6 and IV:7) showing homozygous c.2536G>A mutation which is indicated with red arrows in all affected individuals.

Pakistan Journal of Zoology

October

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

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