ANKRD26基因变异的流行和自然历史:对报告病例的简短回顾和更新

IF 2.5 3区医学 Q3 CELL BIOLOGY

Platelets Pub Date : 2022-11-17 DOI:10.1080/09537104.2022.2071853

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

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引用次数: 5

摘要

ANKRD26是一个高度保守的基因，位于染色体10p12.1上，在正常巨核细胞分化中发挥作用。ANKRD26相关血小板减少症，或称血小板减少症2，是由ANKRD26基因5'UTR点突变引起的遗传性血小板减少症，伴轻度出血。在正常巨核细胞分化过程中，5'UTR区域的点突变已被证明可以阻止转录因子介导的ANKRD26下调。ankrd26相关的血小板减少症患者易患血液系统恶性肿瘤，如急性髓系白血病和骨髓增生异常综合征在文献中最常见。我们回顾了ankrd26相关的血小板减少症的临床特点和生物学机制，并总结了文献中已知的病例。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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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.

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来源期刊

Platelets 医学-细胞生物学

CiteScore

6.70

自引率

3.00%

发文量

审稿时长

1 months

期刊介绍： Platelets is an international, peer-reviewed journal covering all aspects of platelet- and megakaryocyte-related research. Platelets provides the opportunity for contributors and readers across scientific disciplines to engage with new information about blood platelets. The journal’s Methods section aims to improve standardization between laboratories and to help researchers replicate difficult methods. Research areas include: Platelet function Biochemistry Signal transduction Pharmacology and therapeutics Interaction with other cells in the blood vessel wall The contribution of platelets and platelet-derived products to health and disease The journal publishes original articles, fast-track articles, review articles, systematic reviews, methods papers, short communications, case reports, opinion articles, commentaries, gene of the issue, and letters to the editor. Platelets operates a single-blind peer review policy. Authors can choose to publish gold open access in this journal.