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Article

Whole Exome Sequencing Reveals Novel Candidate Genes in Familial Forms of Glaucomatous Neurodegeneration.

Genes - 15 Feb 2023

Narta Kiran, Teltumbade Manoj Ramesh, Vishal Mansi, Sadaf Samreen, Faruq Mohd, Jama Hodan, Waseem Naushin, Rao Aparna, Sen Abhijit, Ray Kunal, Mukhopadhyay Arijit

Abstract excerpt

Glaucoma is the largest cause of irreversible blindness with a multifactorial genetic etiology. This study explores novel genes and gene networks in familial forms of primary open angle glaucoma (POAG) and primary angle closure glaucoma (PACG) to identify rare mutations with high penetrance. Thirty-one samples from nine MYOC-negative families (five POAG and four PACG) underwent whole-exome sequencing and...

Topics

Humans
Glaucoma, Open-Angle
Exome Sequencing
Glaucoma, Angle-Closure
Glaucoma
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 36833422
DOI: 10.3390/genes14020495
PMCID: PMC9957298

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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