Whole-exome sequencing identifies multiple pathogenic variants in a large South Indian family with primary open-angle glaucoma.

ABSTRACT:

Purpose

To identify the pathogenic variants associated with primary open-angle glaucoma (POAG) using whole-exome sequencing (WES) data of a large South Indian family.

Methods

We recruited a large five-generation South Indian family (n = 84) with a positive family history of POAG (n = 19). All study participants had a comprehensive ocular evaluation. We performed WES for 16 samples (nine POAG and seven unaffected controls) since Sanger sequencing of the POAG candidate genes (MYOC, OPTN, and TBK1) showed no genetic variation. We used an in-house pipeline for prioritizing the pathogenic variants based on their segregation among the POAG individual.

Results

We identified one novel and five low-frequency pathogenic variants with consistent co-segregation in all affected in

SUBMITTER: Shah MH 

PROVIDER: S-EPMC8544095 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature