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Article

Detailed assessment of rare and common TERT variation in a family with a telomere biology disorder.

HGG advances - 15 Jan 2026

Zeigler Logan P, Florez-Vargas Oscar, Altintas Burak, Niewisch Marena R, Zhou Weiyin, Giri Neelam, Rafati Maryam, Poeschla Michael, Sankaran Vijay G, Lai Tsung-Po, Aviv Abraham, Jones Kristine, Luo Wen, Liu Jia, McReynolds Lisa J, Zhao Tianna, Prokunina-Olsson Ludmila, Savage Sharon A

Abstract excerpt

Telomere biology disorders (TBDs) are caused by rare pathogenic variants in telomere maintenance genes and often present with variable penetrance of multi-organ system manifestations. We evaluated a family with 14 individuals heterozygous for TERT c.2591T>C (p.L864P) and 13 non-carriers. TRAP assays showed that p.L864P causes a complete loss of telomerase activity. Carriers had shorter lymphocyte telomeres than...

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Telomere Homeostasis

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PMID: 41139959
DOI: 10.1016/j.xhgg.2025.100536
PMCID: PMC12639602

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TERT

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