MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies

MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia

“…6,8 Deafness was observed in 3 patients in this study (P2, P10, P12), confirming the association of deafness with RUS and BMF in this disease. Deafness does not seem to be related to an increased susceptibility to otitis media, as described for mice with a dominant missense change in the C-terminal zinc finger region of Mecom.…”

“…[6][7][8] However, most of our patients (as well as those in the IBMFS study by Bluteau et al 9 ) were not affected by RUS, including 2 patients bearing a mutation reported in the 3 patients with RUSAT2. 6,7,9 For a short time in embryonic development, the radius and ulna share a common perichondrium, and a perturbation of the process of segmentation by abnormal genetic or teratogenic factors can lead to a more or less distinct synostosis, 34 a fact which might explain the differences in the penetrance of this trait.…”

“…Recently, 2 other families with RUSAT2 were described. 7,8 A study investigating germ line mutations in a group of 179 patients with IBMFS identified 6 more patients with MECOM mutations; interestingly, only 1 of them had RUS (supplemental Table 1). 9 In this study, we report on 12 patients with yet unclassified AT from different families caused by mutations in MECOM.…”

“…8 In a family with 4 members affected by MECOM mutations and RUS, 2 developed myelodysplastic syndrome at older ages (73 and 48 years). Although we did not observe any malignancies in our patients or relatives, a continuous disturbance of hematopoiesis in patients with mild hematologic phenotypes may account for a higher risk of malignant transformation.…”

“…Recently, 2 other patients with RUSAT2 were described, 7,8 and Bluteau et al 9 identified 6 patients with MECOM mutations in a large cohort of patients with IBMFSs (supplemental Table 1). …”