Mutations in DKC1, which encodes the pseudouridine synthase dyskerin, can lead to DC, a rare hematopoietic and malignant disorder characterised by an increased susceptibility to tumours and premature aging, as well as its variant, Hoyeraal–Hreidarsson syndrome.95, 96, 97. Here, DKC1 is linked to dyskeratosis congenita.