So far, 10 genes (RUNX1, CEBPA, TERC, TERT, GATA2, SRP72, ANKRD26, ACD, ETV6, and DDX41) germline heterozygous mutations have been reported associate with familial myelodysplasia syndrome (MDS)/acute myeloid leukemia (AML) (Cardoso et al., 2016). The gene discussed is DDX41; the disease is myelodysplastic syndrome.