We also noted a germline duplication in NAPRT1, a major enzyme in cellular metabolism52, in one additional family (FML064, p.Val216_Phe219dup), highlighting its candidacy as it was previously found to be mutated (p.Arg405*) in the affected members of an MDS/AML family described by Patnaik et al.41 (Fig. 3; Supplementary Data 8). The gene discussed is NAPRT; the disease is myelodysplastic syndrome.