Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases


ANKRD26 is a highly conserved gene located on chromosome 10p12.1 which has shown to play a role in normal megakaryocyte differentiation. ANKRD26-related thrombocytopenia, or thrombocytopenia 2, is an inherited thrombocytopenia with mild bleeding diathesis resulting from point mutations the 5'UTR of the ANKRD26 gene. Point mutations in the 5'UTR region have been shown to prevent transcription factor-mediated downregulation of ANKRD26 in normal megakaryocyte differentiation. Patients with ANKRD26-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 ANKRD26-related thrombocytopenia and summarize known cases in the literature.

Authors Vyas H, Alcheikh A, Lowe G, Stevenson WS, Morgan NV, Rabbolini DJ
Journal Platelets
Publication Date 2022 Nov 17;33(8):1107-1112
PubMed 35587581
PubMed Central PMC9555274
DOI 10.1080/09537104.2022.2071853

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