ArticleBMC pulmonary medicine2025
A novel RTEL1 nonsense variant in a case of familial pulmonary fibrosis: clinical description and genetic implications.
Article in BMC pulmonary medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed.
- Hallmarks of the ageing lung: 10 years later.The European respiratory journal · 2026Review
- Clonal Signatures of Telomere Biology Disorders.Current hematologic malignancy reports · 2026Review
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Authors and funding
11 authors.
Funding
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Abstract
Idiopathic pulmonary fibrosis (IPF) is a progressive interstitial lung disease, often linked to telomere-related gene (TRG) mutations in familial forms. Telomere biology disorders can also manifest with systemic features such as bone marrow failure and liver disease. We report a 72-year-old woman with a family history of pulmonary fibrosis and premature hair greying. The patient had a history of bronchopneumonia at age 20 and pulmonary tuberculosis at age 23. Genetic testing identified a novel heterozygous nonsense variant in Regulator of Telomere Elongation Helicase 1 (RTEL1) (NM_001283009.2:c.2962 C > T; p.Gln988Ter). This variant introduces a premature stop codon, likely leading to loss of function. The variant, absent from major population databases, was classified as "likely pathogenic" according to ACMG criteria. RTEL1 encodes a DNA helicase essential for DNA replication and telomere maintenance, and its disruption contributes to epithelial cell dysfunction in pulmonary fibrosis. This case expands the mutational and clinical spectrum of RTEL1-associated interstitial lung diseases and underscores the importance of genetic testing in patients with familial pulmonary fibrosis.
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