Congenital hypoplastic bone marrow failure associated with a de novo partial deletion of the MECOM gene at 3q26.2

Gene
Eigil KjeldsenHenrik Hasle

Abstract

Congenital hypoplastic bone marrow failure is a rare condition in neonates. The genetics and mechanisms behind are largely obscure. Here we characterize a neonate presenting with congenital thrombocytopenia and anemia. During the first 2-4 weeks after birth the neonate developed severe neutropenia while the lymphoid lineages were unaffected. The neonate was without dysmorphic signs. A de novo mono-allelic constitutional microdeletion of 175.1 kb at 3q26.2 affecting exon 2 of MECOM, involving MDS1 but not EVI1, was identified as the only copy number alteration by oligo-based array-CGH analysis. Expression analysis showed profoundly reduced expression of multiple MECOM transcripts in the bone marrow cells. Whole exome sequencing detected no pathogenic mutations in genes known to be associated with inherited bone marrow failure syndromes. The patient was successfully treated with hematopoietic stem cell transplantation at 5 months of age. Interstitial deletions encompassing the 3q26.2 region are very rare. A literature search revealed two previous cases with microdeletions involving this region, and the cases were associated with congenital thrombocytopenia and anemia, but unaffected lymphopoiesis. Together these data indicate tha...Continue Reading

Citations

Oct 21, 2020·Journal of Thrombosis and Haemostasis : JTH·Kate DownesUNKNOWN Subcommittee on Genomics in Thrombosis, Hemostasis
Feb 23, 2021·British Journal of Haematology·Amy M Trottier, Lucy A Godley

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