DKC1 and dyskeratosis congenita: Overall, our study points to short or dysfunctional telomeres as the primary cause of pathology in human cases of DC in the context of mutations in DKC1, TERC and TERT. While the accumulation of DNA damage may contribute to the pathology in some tissues, a dysfunctional DNA damage response is unlikely to play a primary role in the overall clinical phenotype in these individuals.