A rare TERT p.Ala880Thr variant associated with familial pulmonary fibrosis and multisystem involvement: Intrafamilial heterogeneity in a Vietnamese kindred - A case series.

doi:10.1177/17534666261475563

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A rare TERT p.Ala880Thr variant associated with familial pulmonary fibrosis and multisystem involvement: Intrafamilial heterogeneity in a Vietnamese kindred - A case series.

Therapeutic advances in respiratory disease - 1 Jan 2026

Nguyen-Dang Nghi, Tran-Le Quoc-Khanh, Nguyen-Dang Khoa, Duong-Minh Ngoc, Nguyen-Ho Lam, Le-Thuong Vu

Abstract excerpt

Short telomere syndromes (STS) are rare telomere biology disorders caused by germline variants affecting telomere maintenance and may present with organ-limited disease (e.g., pulmonary fibrosis) or multisystem involvement. We report a Vietnamese family carrying a heterozygous TERT p. Ala880Thr variant. The proband was a 42-year-old man with cryptogenic cirrhosis who was incidentally found to have a probable...

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Topics

Humans
Male
Adult
Female
Telomerase
Pedigree

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Vietnam

Heterozygote

Phenotype

Genetic Predisposition to Disease

Idiopathic Pulmonary Fibrosis

Tomography, X-Ray Computed

Lung Diseases, Interstitial

Twins, Monozygotic

Source

Open in PubMed Open full text

Identifiers

PMID: 42670278
DOI: 10.1177/17534666261475563
PMCID: PMC13530462

Genes

TERT
STS

Variants

Provenance

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