Figure 1.

Family with MECOM:p.Cys766Gly missense mutation. Individual identifiers are given below the symbols. For additional information on the phenotype and an overview regarding the hematological malignancies in individual I:1 and II:3, please refer to Online Supplementary Table S1 and Online Supplementary Table S2. Symbol patterns refer to the following features: black upper left third, limb defects including radioulnar synostosis and hearing impairment, grey upper right third, congenital thrombocytopenia, and black-striped lower third, myeloid malignancy. Cys766Gly: heterozygous MECOM missense variant p.Cys766Gly; wt: wild-type; - signifies that no genetic analysis was performed.