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 5ʹUTR of...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2022-11-01
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| Series: | Platelets |
| Subjects: | |
| Online Access: | http://dx.doi.org/10.1080/09537104.2022.2071853 |
| _version_ | 1797684102645678080 |
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| author | Hrushikesh Vyas Ahmad Alcheikh Gillian Lowe William S Stevenson Neil V Morgan David J Rabbolini |
| author_facet | Hrushikesh Vyas Ahmad Alcheikh Gillian Lowe William S Stevenson Neil V Morgan David J Rabbolini |
| author_sort | Hrushikesh Vyas |
| collection | DOAJ |
| description | 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 5ʹUTR of the ANKRD26 gene. Point mutations in the 5ʹUTR 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. |
| first_indexed | 2024-03-12T00:25:40Z |
| format | Article |
| id | doaj.art-ea6c4233e9644873a1a25cc447d9c0c1 |
| institution | Directory Open Access Journal |
| issn | 0953-7104 1369-1635 |
| language | English |
| last_indexed | 2024-03-12T00:25:40Z |
| publishDate | 2022-11-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Platelets |
| spelling | doaj.art-ea6c4233e9644873a1a25cc447d9c0c12023-09-15T10:38:11ZengTaylor & Francis GroupPlatelets0953-71041369-16352022-11-013381107111210.1080/09537104.2022.20718532071853Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported casesHrushikesh Vyas0Ahmad Alcheikh1Gillian Lowe2William S Stevenson3Neil V Morgan4David J Rabbolini5University of BirminghamKolling Institute, University of SydneyUniversity Hospital Birmingham NHS Foundation TrustKolling Institute, University of SydneyUniversity of BirminghamKolling Institute, University of SydneyANKRD26 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 5ʹUTR of the ANKRD26 gene. Point mutations in the 5ʹUTR 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.http://dx.doi.org/10.1080/09537104.2022.2071853ankrd26inherited thrombocytopenia amlmdsplatelet disorderthrombocytopenia |
| spellingShingle | Hrushikesh Vyas Ahmad Alcheikh Gillian Lowe William S Stevenson Neil V Morgan David J Rabbolini Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases Platelets ankrd26 inherited thrombocytopenia aml mds platelet disorder thrombocytopenia |
| title | Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases |
| title_full | Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases |
| title_fullStr | Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases |
| title_full_unstemmed | Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases |
| title_short | Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases |
| title_sort | prevalence and natural history of variants in the ankrd26 gene a short review and update of reported cases |
| topic | ankrd26 inherited thrombocytopenia aml mds platelet disorder thrombocytopenia |
| url | http://dx.doi.org/10.1080/09537104.2022.2071853 |
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