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We identified a novel\n                    <jats:italic>ANKRD26<\/jats:italic>\n                    variant (c.\u2010129_\u2010112del) and investigated its transcriptional impact, platelet function, and haematopoietic effects. We analysed\n                    <jats:italic>ANKRD26<\/jats:italic>\n                    transcription in megakaryocytes derived from 21\n                    <jats:italic>ANKRD26<\/jats:italic>\n                    \u2010RT patients using quantitative reverse transcription droplet digital polymerase chain reaction (PCR). Furthermore, platelet function, megakaryocyte morphology and RNA sequencing were assessed. The novel variant exhibited significantly higher\n                    <jats:italic>ANKRD26<\/jats:italic>\n                    transcription levels than previously reported variants (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.001), but did not show any characteristic clinical phenotypes. Megakaryocytes with the novel variant showed reduced proplatelet formation and lower nuclear ploidy. RNA sequencing revealed upregulation of cell proliferation genes, including dedicator of cytokinesis 2 (\n                    <jats:italic>DOCK2)<\/jats:italic>\n                    , cluster of differentiation (\n                    <jats:italic>CD38)<\/jats:italic>\n                    and interleukin\u20101 receptor accessory protein (\n                    <jats:italic>IL1RAP)<\/jats:italic>\n                    . No platelet\u2010related or megakaryocyte\u2010related genes other than\n                    <jats:italic>ANKRD26<\/jats:italic>\n                    were detected in these variants. The new variant disrupted the runt\u2010related transcription factor 1 (RUNX1)\u2010binding site, leading to ANKRD26 overexpression and possible haematopoietic abnormalities, though it did not directly correlate with clinical severity. However, genes linked to cell proliferation (\n                    <jats:italic>CD38, DOCK2<\/jats:italic>\n                    and\n                    <jats:italic>IL1RAP<\/jats:italic>\n                    ) showed increased expression. Our results suggested a potential link to leucocytosis, although further research is required to confirm this.\n                  <\/jats:p>","DOI":"10.1111\/bjh.70169","type":"journal-article","created":{"date-parts":[[2025,9,16]],"date-time":"2025-09-16T02:31:01Z","timestamp":1757989861000},"page":"2404-2416","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Differential transcript level of\n                    <i>ANKRD26<\/i>\n                    and clinical phenotype among the\n                    <i>ANKRD26<\/i>\n                    variants in the Japanese registry for congenital thrombocytopenia"],"prefix":"10.1111","volume":"207","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2222-5425","authenticated-orcid":false,"given":"Atsushi","family":"Sakamoto","sequence":"first","affiliation":[{"name":"Center for Postgraduate Education and Training National Center for Child Health and Development (NCCHD)  Setagaya Tokyo Japan"},{"name":"Division of Haematology NCCHD  Setagaya Tokyo Japan"},{"name":"Department of Paediatrics National Hospital Organization Disaster Medical Center  Tachikawa Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toru","family":"Uchiyama","sequence":"additional","affiliation":[{"name":"Department of Human Genetics NCCHD  Setagaya Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuhiko","family":"Nakabayashi","sequence":"additional","affiliation":[{"name":"Department of Maternal\u2010Fetal Biology NCCHD  Setagaya Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Shimada","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Jichi Medical University  Shimotsuke Tochigi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidemi","family":"Shimonodan","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Miyazaki Prefectural Miyazaki Hospital  Miyazaki Miyazaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hitomi","family":"Kojima","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Miyazaki Prefectural Miyazaki Hospital  Miyazaki Miyazaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaki","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Sapporo Medical University School of Medicine  Sapporo Hokkaido Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dai","family":"Keino","sequence":"additional","affiliation":[{"name":"Division of Haematology\/Oncology Kanagawa Children's Medical Center  Yokohama Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadashi","family":"Anan","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Graduate School of Medical Sciences Kumamoto University  Kumamoto Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kozue","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Teikyo University  Itabashi Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsushi","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Haematology and Oncology Miyagi Children's Hospital  Sendai Miyagi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osamu","family":"Ohara","sequence":"additional","affiliation":[{"name":"Department of Applied Genomics Kazusa DNA Research Institute  Kisarazu Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadashi","family":"Kaname","sequence":"additional","affiliation":[{"name":"Department of Genome Medicine NCCHD  Setagaya Tokyo 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