Recent studies demonstrated the involvement of SETBP1 germ line mutations in Schinzel-Giedion syndrome (SGS, OMIM269150) and SETBP1 Haploinsufficiency Disorder (SETBP1-HD, OMIM616078) and SETBP1 somatic mutations in several hematological malignancies [3–6]. This evidence concerns the gene SETBP1 and Schinzel-Giedion syndrome.