We propose the term MECOM-associated syndrome for this heterogeneous hereditary disease and inclusion of <i>MECOM</i> sequencing in the diagnostic workup of congenital bone marrow failure.
We also found mutations in genes seldom reported in inherited BMF (IBMF), such as <i>SAMD9</i> and <i>SAMD9L</i> (N = 16 of the 86 patients, 18.6%), <i>MECOM/EVI1</i> (N = 6, 7.0%), and <i>ERCC6L2</i> (N = 7, 8.1%), each of which was associated with a distinct natural history; <i>SAMD9</i> and <i>SAMD9L</i> patients often experienced transient aplasia and monosomy 7, whereas <i>MECOM</i> patients presented early-onset severe aplastic anemia, and <i>ERCC6L2</i> patients, mild pancytopenia with myelodysplasia.
We report for the first time a constitutional deletion encompassing the EVI1 and MDS1 genes in a human, and argue that the deletion causes congenital bone marrow failure in this patient.