TERT and TERC mutations detected in cryptic dyskeratosis congenita suppress telomerase activity.
Kazuki TeradaKoichi MiyakeHiroki YamaguchiNoriko MiyakeKeiichiro YamanakaSeiji KojimaEtsuro ItoKoiti InokuchiTakashi OkadaPublished in: International journal of laboratory hematology (2020)
These findings suggest that TERT and TERC mutations detected in cDKC patients could potentially contribute to the pathogenesis of cDKC by blocking telomerase activity. However, TERT and TERC mutations detected in DKC patients did not affect telomerase activities, which means studying the telomerase activity of mutants are not always useful for the diagnosis of DKC.