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Updated: Jan 9, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic

Eileen Wedge1,2,3, Andreas Ørslev Rasmussen4, Line Borgwardt4

  • 1Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.

American Journal of Medical Genetics. Part A
|December 3, 2025
PubMed
Summary

Heterozygous pathogenic RTEL1 variants are linked to telomere biology disorders (TBD), causing a spectrum of symptoms including hematological and pulmonary issues. This nationwide analysis highlights reduced penetrance and varied clinical presentations in affected individuals.

Keywords:
dyskeratosis congenitagenome sequencingmyelodysplastic neoplasiapulmonary fibrosistelomere biology disorder

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