{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T09:57:15Z","timestamp":1753869435961,"version":"3.41.2"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,6,13]],"date-time":"2025-06-13T00:00:00Z","timestamp":1749772800000},"content-version":"vor","delay-in-days":12,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["eJHaem"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Inherited thrombocytopenias (ITs) are a diverse group of hematological disorders. This study reports a novel case of severe thrombocytopenia in two male twins from nonconsanguineous parents. Whole exome sequencing (WES) identified a heterozygous genetic variant (c.1766T &gt; C; p.L589S) in the helicase domain of the <jats:italic>SLFN14<\/jats:italic> gene in the twins, their mother, and maternal grandmother, while the father and maternal grandfather did not carry the genetic variant. Despite carrying the genetic variant, the mother and maternal grandmother showed no abnormal phenotypes. The twins exhibited significantly reduced platelet counts, abnormal megakaryocyte accumulation, and arrested maturation, broadening the spectrum of SLFN14\u2010related thrombocytopenia.<\/jats:p><jats:p><jats:bold>Clinical Trial Registration<\/jats:bold>: The authors confirm that registration of a clinical trial is not necessary for this submission.<\/jats:p>","DOI":"10.1002\/jha2.70068","type":"journal-article","created":{"date-parts":[[2025,6,13]],"date-time":"2025-06-13T08:27:37Z","timestamp":1749803257000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Severe Thrombocytopenia Is Associated with a Genetic Variant in the Helicase Domain of <i>SLFN14<\/i> Gene: A Case Report"],"prefix":"10.1002","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-1527-5188","authenticated-orcid":false,"given":"Kun","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Pediatrics Taihe Hospital Affiliated of Hubei University of Medicine  Shiyan Hubei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peixiao","family":"Fu","sequence":"additional","affiliation":[{"name":"Department of Dermatology Taihe Hospital Affiliated of Hubei University of Medicine  Shiyan Hubei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinyun","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Taihe Hospital Affiliated of Hubei University of Medicine  Shiyan Hubei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Taihe Hospital Affiliated of Hubei University of Medicine  Shiyan Hubei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Taihe Hospital Affiliated of Hubei University of Medicine  Shiyan Hubei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunhai","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Urology &amp; Andrology, Sir Run Run Shaw Hospital Zhejiang University School of Medicine  Hangzhou Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiaowei","family":"Gu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Taihe Hospital Affiliated of Hubei University of Medicine  Shiyan Hubei China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,6,13]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/asheducation-2017.1.385"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1080\/09537104.2019.1648781"},{"key":"e_1_2_12_4_1","first-page":"2261","article-title":"Ribosome Dysfunction Underlies SLFN14\u2010related Thrombocytopenia","volume":"141","author":"Ver Donck F","year":"2023","journal-title":"Blood"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2020002404"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1021\/acs.biochem.5b00302"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-03544-x"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-023-02675-9"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.18481"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1160\/TH15-11-0884"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI80347"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11596-018-1974-2"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2023.284951"}],"container-title":["eJHaem"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jha2.70068","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,23]],"date-time":"2025-06-23T13:23:18Z","timestamp":1750684998000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jha2.70068"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,6]]}},"alternative-id":["10.1002\/jha2.70068"],"URL":"https:\/\/doi.org\/10.1002\/jha2.70068","archive":["Portico"],"relation":{},"ISSN":["2688-6146","2688-6146"],"issn-type":[{"type":"print","value":"2688-6146"},{"type":"electronic","value":"2688-6146"}],"subject":[],"published":{"date-parts":[[2025,6]]},"assertion":[{"value":"2025-03-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-29","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-06-13","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70068"}}