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December 8, 2025BloodOpen Access

A continuum of inherited telomere dysfunction links TERT rare variants to age-related diseases

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Authors

SWSean WenDGDimitris GazgalisFTFrederick D. Tsai

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Overview

Analysis shows TERT rare variants link to shorter telomere length in individuals, indicating effects on clinical phenotypes and hematopoiesis.

Key Points

  • Severe TERT rare variants were associated with shorter telomere length compared to healthy controls, indicating disease risk.
  • Among studied variants, significant links to bone marrow failure and pulmonary fibrosis were observed across 462,666 UK Biobank participants.
  • Functional impairment of variants was evaluated using molecular simulations, highlighting domain-specific effects on telomere biology.
  • Results suggest a continuum of telomere dysfunction influenced by both rare and common genetic variants.

Cite This Study

Wen et al. (2025) studied this question.

synapsesocial.com/papers/69362f364fa91c937236d33ehttps://doi.org/10.1182/blood-2025-749
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Telomerase activity in T-cells as a functional test for pathogenicity assessment of novel genetic variants in telomere biology disorders2025
  2. 2Case Series: Clinical Significance of Heterozygous Pathogenic <scp> <i>RTEL1</i> </scp> Variants Identified via Routine Clinical Genetic Diagnostics2025
  3. 3Telomere biology disorder associated lung disease- case report of a <i>TERT</i> gene variant as the cause of pleuroparenchymal fibroelastosis2025
  4. 4Supplementary Figure 3 from Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study2025
  5. 5Diagnosis and management of adult telomere biology disorders2025