Four of the five mutations detected in patients with MS (P01, P02, P03, P04, P05, P06, and P08) were de novo missense variants, while in one of the patients (P07, A.C.), a heterozygous frameshift mutation c.7180C>T, p.(Cys2390LeufsTer16) in the FBN1 gene was identified. The gene discussed is FBN1; the disease is myeloid sarcoma.