Prevalence and natural history of variants in the gene: a short review and update of reported cases.

is a highly conserved gene located on chromosome 10p12.1 which has shown to play a role in normal megakaryocyte differentiation. -related thrombocytopenia, or thrombocytopenia 2, is an inherited thrombocytopenia with mild bleeding diathesis resulting from point mutations the 5'UTR of the gene. Point mutations in the 5'UTR region have been shown to prevent transcription factor-mediated downregulation of in normal megakaryocyte differentiation. Patients with -related thrombocytopenia have a predisposition to developing hematological malignancies, with acute myeloid leukemia and myelodysplastic syndrome most commonly described in the literature. We review the clinical features and biological mechanisms of -related thrombocytopenia and summarize known cases in the literature.