Identities and frequencies of variants in <i>CYP1B1</i> causing primary congenital glaucoma in Pakistan.

Abstract

Purpose: Primary congenital glaucoma (PCG) is a clinically and genetically heterogeneous disease. The present study was undertaken to find the genetic causes of PCG segregating in 36 large consanguineous Pakistani families. Methods: genes were analyzed with either Sanger or whole exome sequencing. In silico prediction programs were used to assess the pathogenicity of identified alleles. ClustalW alignments were performed to determine evolutionary conservation, and three-dimensional (3D) modeling was performed using HOPE and Phyre2 software. Results: pathogenic variants in the families, which further supports the genetic heterogeneity of PCG in the Pakistani population. Conclusions: , and contribute to the development of genetic testing protocols and genetic counseling for PCG in Pakistani families.