EJHaem · Jan 24, 2025

A novel TERT variant associated with a telomere biology disorder and challenges in variant classification

By Pazhakh V, Fox LC, Elzen ND et al.

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.

doi.org/10.1002/jha2.1066Open accessPubMed 39866942Mechanisms