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

Hrushi Vyas; Ahmad Alcheikh; Gillian Lowe; William S Stevenson; Neil Morgan; David J Rabbolini

doi:10.1080/09537104.2022.2071853

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

Hrushi Vyas, Ahmad Alcheikh, Gillian Lowe, William S Stevenson, Neil Morgan, David J Rabbolini

Cardiovascular Sciences

Research output: Contribution to journal › Review article › peer-review

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Abstract

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.

Original language	English
Pages (from-to)	1107-1112
Number of pages	6
Journal	Platelets
Volume	33
Issue number	8
Early online date	19 May 2022
DOIs	https://doi.org/10.1080/09537104.2022.2071853
Publication status	Published - 17 Nov 2022

Bibliographical note

Funding 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).

Publisher Copyright:
© 2022 The Author(s). Published with license by Taylor & Francis Group, LLC.

Keywords

ANKRD26
MDS
inherited thrombocytopenia AML
platelet disorder
thrombocytopenia

ASJC Scopus subject areas

Hematology

Access to Document

10.1080/09537104.2022.2071853Licence: Creative Commons: Attribution (CC BY)

vyash2022prevalenceFinal published version, 1.31 MBLicence: Creative Commons: Attribution (CC BY)

Investigating the role of SLFN14 in megakaryocyte and platelet biology
Morgan, N. (Principal Investigator) & Watson, S. (Co-Investigator)
British Heart Foundation
4/06/18 → 3/06/21
Project: Research
Functional investigation of SLFN14 in megakaryocyte and platelet biology
Morgan, N. (Principal Investigator) & Gough, R. (Co-Investigator)
British Heart Foundation
22/08/17 → 20/02/20
Project: Research
Identification and functional investigation of genes in patients with inherited bleeding disorders
Morgan, N. (Principal Investigator) & Watson, S. (Co-Investigator)
British Heart Foundation
28/09/15 → 27/09/18
Project: Research
Molecular Genetic Investigation of Patients with Congenital Thrombocytopenias
Morgan, N. (Principal Investigator), Harrison, P. (Co-Investigator), Lowe, G. (Co-Investigator) & Watson, S. (Co-Investigator)
British Heart Foundation
18/11/13 → 17/11/16
Project: Research

Cite this

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

abstract = " 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. ",

keywords = "ANKRD26, MDS, inherited thrombocytopenia AML, platelet disorder, thrombocytopenia",

author = "Hrushi Vyas and Ahmad Alcheikh and Gillian Lowe and Stevenson, {William S} and Neil Morgan and Rabbolini, {David J}",

note = "Funding Information: The work in the author{\textquoteright}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). Publisher Copyright: {\textcopyright} 2022 The Author(s). Published with license by Taylor & Francis Group, LLC.",

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doi = "10.1080/09537104.2022.2071853",

language = "English",

volume = "33",

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TY - JOUR

T1 - Prevalence and natural history of variants in the ANKRD26 gene

T2 - a short review and update of reported cases

AU - Vyas, Hrushi

AU - Alcheikh, Ahmad

AU - Lowe, Gillian

AU - Stevenson, William S

AU - Morgan, Neil

AU - Rabbolini, David J

N1 - Funding 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). Publisher Copyright: © 2022 The Author(s). Published with license by Taylor & Francis Group, LLC.

PY - 2022/11/17

Y1 - 2022/11/17

N2 - 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.

AB - 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.

KW - ANKRD26

KW - MDS

KW - inherited thrombocytopenia AML

KW - platelet disorder

KW - thrombocytopenia

U2 - 10.1080/09537104.2022.2071853

DO - 10.1080/09537104.2022.2071853

M3 - Review article

C2 - 35587581

SN - 0953-7104

VL - 33

SP - 1107

EP - 1112

JO - Platelets

JF - Platelets

IS - 8

ER -

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

Abstract

Bibliographical note

Keywords

ASJC Scopus subject areas

Access to Document

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Projects

Investigating the role of SLFN14 in megakaryocyte and platelet biology

Functional investigation of SLFN14 in megakaryocyte and platelet biology

Identification and functional investigation of genes in patients with inherited bleeding disorders

Molecular Genetic Investigation of Patients with Congenital Thrombocytopenias

Cite this