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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.
Bibliographical noteFunding Information:
The work in the author’s laboratories is supported by the British Heart Foundation (PG/13/36/30275; FS/15/18/31317; PG/16/103/32650; FS/18/11/33443; NVM).
© 2022 The Author(s). Published with license by Taylor & Francis Group, LLC.
- inherited thrombocytopenia AML
- platelet disorder
ASJC Scopus subject areas
FingerprintDive into the research topics of 'Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases'. Together they form a unique fingerprint.
- 4 Finished
4/06/18 → 3/06/21
Morgan, N. & Gough, R.
22/08/17 → 20/02/20
28/09/15 → 27/09/18
18/11/13 → 17/11/16