Identities and frequencies of variants in CYP1B1 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

Ophthalmic examination including fundoscopy, or slit-lamp microscopy was performed to clinically characterize the PCG phenotype. Genomic nucleotide sequences of the CYP1B1 and LTBP2 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

Among the known loci, mutatio

SUBMITTER: Rashid M 

PROVIDER: S-EPMC6386514 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature