Furthermore, we identified novel or rare pathogenic variants within ZCCHC8, that include a recurrent variant (p.Gly170Arg), in an allelic series of cases presenting DC or DCL features including an MDS phenotype (DCL 61; Fig. 5A; Table 4), which is a recognised complication among patients with inherited bone marrow failure. Here, ZCCHC8 is linked to dyskeratosis congenita.