Germline mutations in sterile alpha motif domain protein 9 (SAMD9) and its paralogue SAMD9-like (SAMD9L), which are located in tandem on chromosome 7q21, are associated with human syndrome with a propensity for bone marrow failure and myelodysplastic syndrome (MDS) with monosomy 7 and 7q deletion (100, 101). The gene discussed is SAMD9L; the disease is myelodysplastic syndrome.