The TERT gene can lead to telomere biology disorders, which form a spectrum ranging from mild adult-onset disease to severe childhood conditions. These disorders are associated with increased risks for bone marrow failure, pulmonary fibrosis (scarring of the lungs), liver disease, and certain cancers, including myelodysplastic syndrome and acute myeloid leukemia. Management focuses on regular monitoring of blood counts, lung and liver function, and cancer surveillance. In addition, lifestyle changes such as avoiding smoking and limiting environmental lung irritants are also recommended. TERT-related disease is not known to be more common in the Ashkenazi Jewish population.
Pathogenic variants in TERT exhibit autosomal dominant inheritance. This means there is a 50% chance the condition can be passed from generation-to-generation. First degree relatives (parents, siblings, children) have a 50% chance to have the same pathogenic variant whereas second degree relatives (grandparents, aunts/uncles, nieces/nephews, half-siblings) have a 25% chance. More distant relatives have lower chances of having the same pathogenic variant when one is identified in the family.
In addition, when an individual inherits pathogenic variants in both copies of the TERT gene (autosomal recessive inheritance), this can also cause a telomere biology disorders. This means that both parents must have a single pathogenic variant in the TERT gene to have a 25% chance to have a child with the condition.
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Written December 2025
