The occurrence of MDS/AML in certain families may also coincide with other non-hematological features: the index case of family FML019 presented with MDS and congenital deafness, analogous to a case reported by Saida et al.35 in a family with identical germline GATA2 variant (p.Arg362*) (Fig. 2f). The gene discussed is GATA2; the disease is myelodysplastic syndrome.