Paucity of optineurin gene variants in Indian juvenile open-angle glaucoma patients.

ABSTRACT:

Purpose

In the current study, we have screened the OPTN gene in a cohort of unrelated juvenile open-angle glaucoma (JOAG) patients negative for possible pathogenic variants in CYP1B1 and MYOC genes.

Methods

Polymerase chain reaction (PCR) amplification and sequencing were employed to identify nucleotide variants within the coding sequence and intron-exon boundaries of the OPTN gene in 85 JOAG patients and 100 controls. A pathogenicity prediction of identified variants was performed by six distinct online algorithms. Possible structural alterations caused by pathogenic variants were investigated using GOR IV, PyMol, ChimeraX, and molecular dynamics simulations using Gromacs software.

Results and discussion

PCR amplification and sequencing revealed a total of 27 variati

SUBMITTER: Yadav M 

PROVIDER: S-EPMC12416582 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature