Evidence map›Paper›PMID 42758422›Full record

ArticleGenes & genomics2026

Exome-wide screening discovers novel pathogenic variants in Vietnamese primary congenital glaucoma patients.

Thi Mai Anh Dao, Van Khanh Tran, Phuoc-Dung Nguyen, Ngoc Lan Nguyen, Quoc Tung Mai, Le Thi Phuong, Tran Thi Quynh Trang, Trong Van Pham, Hung M Vu, Thi Anh Van Bui and 5 more

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Article in Genes & genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

15 authors.

Thi Mai Anh DaoHanoi Medical University, 1st Ton That Tung Street, Hanoi, 11521, Vietnam.
Van Khanh TranCenter for Gene and Protein Research, Hanoi Medical University, 1st Ton That Tung Street, Hanoi, 11521, Vietnam.
Phuoc-Dung NguyenCenter for Gene and Protein Research, Hanoi Medical University, 1st Ton That Tung Street, Hanoi, 11521, Vietnam.
Ngoc Lan NguyenCenter for Gene and Protein Research, Hanoi Medical University, 1st Ton That Tung Street, Hanoi, 11521, Vietnam.
Quoc Tung MaiDepartment of Ophthalmology and Optometry, Hanoi Medical University, 1st Ton That Tung Street, Hanoi, 11521, Vietnam.
Le Thi PhuongCenter for Gene and Protein Research, Hanoi Medical University, 1st Ton That Tung Street, Hanoi, 11521, Vietnam.
Tran Thi Quynh TrangCenter for Gene and Protein Research, Hanoi Medical University, 1st Ton That Tung Street, Hanoi, 11521, Vietnam.
Trong Van PhamDepartment of Ophthalmology and Optometry, Hanoi Medical University, 1st Ton That Tung Street, Hanoi, 11521, Vietnam.
Hung M VuCenter for Gene and Protein Research, Hanoi Medical University, 1st Ton That Tung Street, Hanoi, 11521, Vietnam.
Thi Anh Van BuiDepartment of Ophthalmology, Tam Anh Hospital, 108 Hoang Nhu Tiep Street, Hanoi, 11813, Vietnam.
Thanh Van TaCenter for Gene and Protein Research, Hanoi Medical University, 1st Ton That Tung Street, Hanoi, 11521, Vietnam.
Thinh Huy TranBiochemistry Department, Hanoi Medical University, 1st Ton That Tung Street, Hanoi, 11521, Vietnam.
Ji-Hwan ParkDepartment of Biological Science, Ajou University, 206 World cup-ro, Suwon, 16499, Republic of Korea.
Minjae KimDepartment of Biological Science, Ajou University, 206 World cup-ro, Suwon, 16499, Republic of Korea.
Huy Nguyen VanVietnam National Eye Hospital, 85 Ba Trieu Street, Hanoi, 11614, Vietnam. nguyenvanhuy.vneh@gmail.com.ORCID http://orcid.org/0009-0005-4327-6343

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPrimary congenital glaucoma (PCG), the most prevalent pediatric variant, is a major contributor of childhood blindness globally. Traditional diagnosis relies on clinical features such as the classic triad (epiphora, photophobia, and blepharospasm), elevated intraocular pressure (IOP), corneal enlargement and optic disc cupping. Early diagnosis remains challenging as the conventional diagnosis often requires cooperation from pediatric patients.

objectiveTo identify the genetic etiology and underlying variants in a cohort of Vietnamese patients diagnosed with PCG using WES.

methodsA cohort of 32 Vietnamese patients with clinically diagnosed PCG was subjected to Whole-Exome Sequencing (WES) for genetic etiology identification. Validation of candidate variants was achieved using Sanger sequencing, with pathogenicity classification following ACMG/AMP guideline.

resultsGenetic examination revealed pathogenic/likely pathogenic variants in 18.75% of the cohort (6/32 probands), involving in three genes: CYP1B1, TEK, FOXC1; and VUS in 6.25% (2/32 probands) spanning the gene LTBP2, FBN1. Three novel point variants in glaucoma-assiciated genes were identified, including a frameshift in FOXC1 (p.Tyr5fs*40), a stop-gained variant in TEK (p.Trp216*), and a missense variant in FBN1 (p.Lys54Glu). Additionally, a new putative large chromosomal deletion was identified on FOXC1 gene. While CYP1B1 remains a primary driver of PCG, finding alterations in FOXC1 and FBN1-typically associated with Axenfeld-Rieger and Marfan syndromes-underscores the clinical overlap between PCG and other developmental or systemic disorders.

conclusionAchieving a 25% diagnostic rate, the study suggests that broader genetic testing by WES would greatly beneficial in the identification and categorization of glaucoma. The data suggest that WES is a powerful diagnostic resource, particularly when corneal clouding impedes fundus examination, and can provide essential insights into systemic syndromic risks.

Indexed as

Childhood glaucomaGenetic disorderPrimary congenital glaucomaWhole-exome sequencing

Identifiers

PMID42758422

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