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
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
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.
December 2017
Vol. 49, Iss. 6, Pages 1937-2341
