{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:18Z","timestamp":1772160078351,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,5,17]],"date-time":"2024-05-17T00:00:00Z","timestamp":1715904000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009477","name":"Lottery Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009477","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,9]]},"abstract":"Abstract<\/jats:title>\n \n Variants in the 5\u2032 UTR of\n ANKRD26<\/jats:italic>\n are a common cause of inherited thrombocytopenia (\n ANKRD26<\/jats:italic>\n \u2010RT), and are associated with sustained\n ANKRD26<\/jats:italic>\n expression, which inhibits megakaryocyte maturation and proplatelet formation.\n ANKRD26<\/jats:italic>\n expression is controlled by the binding of a RUNX1\/FLI1 complex to the 5\u2032 UTR. To date, all reported\n ANKRD26<\/jats:italic>\n \u2010RD associated variants have been within the RUNX1 binding site and a 22 base pair flanking region. Here, we report a novel variant in the 5\u2032 UTR of\n ANKRD26<\/jats:italic>\n , c.\u2010107C>T. This variant is in the FLI1 binding site, and is predicted to disrupt FLI1 binding due to loss of a hydrogen bond with FLI1. Differentiated PBMCs from affected family members showed impaired megakaryocyte maturation and proplatelet formation and sustained expression of\n ANKRD26<\/jats:italic>\n , and platelets from affected family members had higher\n ANKRD26<\/jats:italic>\n expression than control platelets. The variant increased activity of the\n ANKRD26<\/jats:italic>\n promotor in a reporter assay. We also provide evidence that the previously reported c.\u2010140C>G\n ANKRD26<\/jats:italic>\n 5\u2032 UTR variant is benign and not associated with thrombocytopenia. Identification of the c.\u2010107C>T variant extends the range of the regulatory region in the 5\u2032 UTR of\n ANKRD26<\/jats:italic>\n that is associated with\n ANKRD26<\/jats:italic>\n \u2010RT.\n <\/jats:p>","DOI":"10.1111\/cge.14547","type":"journal-article","created":{"date-parts":[[2024,5,17]],"date-time":"2024-05-17T03:53:52Z","timestamp":1715918032000},"page":"315-320","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Inherited thrombocytopenia associated with a variant in the\n FLI1<\/scp>\n binding site in the 5\u2032\n UTR<\/scp>\n of\n ANKRD26<\/i>"],"prefix":"10.1111","volume":"106","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-6128-8517","authenticated-orcid":false,"given":"Caitlin","family":"Dunstan\u2010Harrison","sequence":"first","affiliation":[{"name":"Department of Biochemistry, School of Biomedical Sciences University of Otago Dunedin New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3616-0025","authenticated-orcid":false,"given":"Ian M.","family":"Morison","sequence":"additional","affiliation":[{"name":"Department of Pathology, Dunedin School of Medicine University of Otago Dunedin New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4956-6043","authenticated-orcid":false,"given":"Elizabeth C.","family":"Ledgerwood","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, School of Biomedical Sciences University of Otago Dunedin New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,5,17]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102011\u201002\u2010336537"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2022017735"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/09537104.2022.2071853"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.12.006"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11899\u2010022\u201000666\u20104"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2022007211"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2022.282049"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI71861"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471250953.bi1110s43"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.14421"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms14023456"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.9.e45"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008\u20105472.CAN\u201004\u20100496"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1021\/acs.biochem.5b01121"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1080\/09537104.2016.1267337"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1080\/09537104.2023.2262607"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431\u2010015\u20102549\u2010x"}],"container-title":["Clinical 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