A novel TERT variant associated with a telomere biology disorder and challenges in variant classification
- Author(s)
- Pazhakh, V; Fox, LC; Elzen, ND; Emerson, MR; Cohen, SB; Bryan, TM; Norris, K; Baird, DM; Cochrane, T; Mackintosh, J; Scott, A; Blombery, P;
- Details
- Publication Year 2025-02,Volume 6,Issue #1,Page e1066
- Journal Title
- eJHaem
- Publication Type
- Research article
- Abstract
- Telomere biology disorders (TBDs) are inherited conditions associated with multisystem manifestations. We describe clinical and functional characterisation of a novel TERT variant. Whole-genome sequencing was performed along with single telomere length analysis (STELA). Telomerase activity and processivity were assessed. A novel TERT variant (K710R) was detected in a patient with classic TBD features showing reduced telomerase activity and processivity. Despite clinical and functional evidence, the variant was classified as a variant of uncertain significance. We have described a novel TERT variant and highlighted the need for further refinement of variant classification specific for TBDs.
- Publisher
- Wiley
- Keywords
- TERT variant; genetic anticipation; telomerase activity; telomere biology disorders; variant curation
- Department(s)
- Pathology; Haematology
- Publisher's Version
- https://doi.org/10.1002/jha2.1066
- Open Access at Publisher's Site
https://doi.org/10.1002/jha2.1066- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2025-01-30 02:31:35
Last Modified: 2025-01-30 02:34:12