Pazhakh, Vahid, Fox, Lucy C., Den Elzen, Nicole, Emerson, Matthew R., Cohen, Scott B., Bryan, Tracy M., Norris, Kevin, Baird, Duncan M. ![]() ![]() |
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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.
Item Type: | Article |
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Date Type: | Publication |
Status: | Published |
Schools: | Medicine |
Publisher: | Wiley |
ISSN: | 2688-6146 |
Funders: | Medical Research Future Fund |
Date of First Compliant Deposit: | 26 November 2024 |
Date of Acceptance: | 21 December 2024 |
Last Modified: | 05 Feb 2025 14:50 |
URI: | https://orca.cardiff.ac.uk/id/eprint/174301 |
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