{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T04:17:42Z","timestamp":1747196262450,"version":"3.40.5"},"reference-count":33,"publisher":"Public Library of Science (PLoS)","issue":"12","license":[{"start":{"date-parts":[[2022,12,19]],"date-time":"2022-12-19T00:00:00Z","timestamp":1671408000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Korean government","award":["NRF-2017R1A2A1A17069780, NRF-2020R1A3B3079653"],"award-info":[{"award-number":["NRF-2017R1A2A1A17069780, NRF-2020R1A3B3079653"]}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:p>Hereditary thrombocytopenia is a heterogeneous group of congenital disorders with a wide range of symptoms depending on the severity of platelet dysfunction or thrombocytopenia. Because of its clinical phenotypes and the bone marrow morphology associated with this condition, hereditary thrombocytopenia can be misdiagnosed as primary immune thrombocytopenia and myelodysplastic syndrome. Therefore, genetic evidence is necessary for the accurate diagnosis of hereditary thrombocytopenia. Refractory cytopenia of childhood is a subgroup of myelodysplastic syndrome that was added to the World Health Organization classification in 2008. To investigate the germline and somatic variants associated with refractory cytopenia of childhood, we performed targeted multigene sequencing in three patients with refractory cytopenia of childhood. Of the three patients, one progressed from megakaryocytic hypoplasia with thrombocytopenia, and targeted multigene sequencing revealed <jats:italic>THPO<\/jats:italic> variants in this patient and his sister. We propose that the monoallelic deletion of <jats:italic>THPO<\/jats:italic> is a potential candidate for germline predisposition to myeloid malignancy.<\/jats:p>","DOI":"10.1371\/journal.pone.0271624","type":"journal-article","created":{"date-parts":[[2022,12,19]],"date-time":"2022-12-19T18:27:21Z","timestamp":1671474441000},"page":"e0271624","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel THPO variant in hereditary thrombocytopenia: A potential candidate variant for predisposition to myeloid neoplasm"],"prefix":"10.1371","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5873-6916","authenticated-orcid":true,"given":"Seok Ryun","family":"Kwon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Man Jin","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Young-eun","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiwon","family":"Yun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Da-jeong","family":"Jeong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0261-2185","authenticated-orcid":true,"given":"Jae Hyeon","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunghoon","family":"Kwon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7085-9270","authenticated-orcid":true,"given":"Dong Soon","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2022,12,19]]},"reference":[{"key":"pone.0271624.ref001","doi-asserted-by":"crossref","first-page":"533","DOI":"10.3390\/jcm10030533","article-title":"Learning the ropes of platelet count regulation: inherited thrombocytopenias.","volume":"10","author":"L Bury","year":"2021","journal-title":"J Clin Med"},{"key":"pone.0271624.ref002","doi-asserted-by":"crossref","first-page":"4521","DOI":"10.3390\/ijms22094521","article-title":"Inherited platelet disorders: an updated overview.","volume":"22","author":"V Palma-Barqueros","year":"2021","journal-title":"Int J Mol Sci"},{"key":"pone.0271624.ref003","doi-asserted-by":"crossref","first-page":"1700","DOI":"10.1111\/jth.14217","article-title":"Thrombopoietin receptor agonists in hereditary thrombocytopenias","volume":"16","author":"F Rodeghiero","year":"2018","journal-title":"J Thromb Haemost"},{"key":"pone.0271624.ref004","first-page":"1","article-title":"Acquired amegakaryocytic thrombocytopenia misdiagnosed as immune thrombocytopenia: a case report.","volume":"24","author":"AM Roy","year":"2020","journal-title":"Perm J"},{"key":"pone.0271624.ref005","doi-asserted-by":"crossref","first-page":"68","DOI":"10.3960\/jslrt.18018","article-title":"The histopathology of bone marrow failure in children","volume":"58","author":"H. 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