{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T22:14:19Z","timestamp":1787004859070,"version":"build-2736575974"},"reference-count":18,"publisher":"Georg Thieme Verlag KG","issue":"02","funder":[{"name":"The Project of Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province","award":["2022E10022"],"award-info":[{"award-number":["2022E10022"]}]},{"name":"The Project of Wenzhou Public Welfare Science and Technology","award":["Y2020110"],"award-info":[{"award-number":["Y2020110"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hamostaseologie"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Background\u2003Hereditary coagulation factor XII (FXII) deficiency is an autosomal recessive disorder. At present, the contribution of severe FXII deficiency to the development of thromboembolism is still undetermined. There are limited reports on the relationship between the FXII defect and thromboembolism.<\/jats:p>\n                  <jats:p>Case Presentation\u2003A 27-year-old woman came to our hospital for the treatment of shoulder trauma and cervical disc herniation caused by a car accident. The shoulder trauma was treated with five stitches. After physical examination, imaging examination, and routine coagulation examination, cervical disc herniation was treated conservatively. Combined with the examination results, the patient was diagnosed with FXII deficiency. Unfortunately, the patient was readmitted 10 days after the trauma with edema in the lower limbs and secondary varicose veins. The D-dimer increased to 6.22\u2009mg\/L. Thrombus in the inferior vena cava and right common iliac was shown by lower limb venography. According to the patient's medical history, the F12 gene was analyzed by direct sequencing. The patient was also screened for other thrombotic risk factors. Genetic analysis showed that the patient had a c.1748T\u2009&gt;\u2009A (p.Ile583Asn) homozygous missense mutation in exon 14 of the F12 gene. No other hereditary thrombophilia risk factors screened were positive in the patient.<\/jats:p>\n                  <jats:p>Conclusion\u2003The p.Ile583Asn missense mutation in exon 14 of the F12 gene might be responsible for the reduction of the FXII level in the patient.<\/jats:p>","DOI":"10.1055\/a-1962-1490","type":"journal-article","created":{"date-parts":[[2022,12,8]],"date-time":"2022-12-08T19:19:48Z","timestamp":1670527188000},"page":"142-145","source":"Crossref","is-referenced-by-count":4,"title":["A Novel Homozygous Missense Mutation (Ile583Asn) in a Consanguineous Marriage Family with Hereditary Factor XII Deficiency: A Case Report"],"prefix":"10.1055","volume":"43","author":[{"given":"Shuting","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haixiao","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meina","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyong","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingshan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2022,12,8]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"2118","DOI":"10.1016\/j.bbamcr.2017.07.009","article-title":"The plasma contact system, a protease cascade at the nexus of inflammation, coagulation and immunity","volume":"1864","author":"H Weidmann","year":"2017","journal-title":"Biochim Biophys Acta Mol Cell Res"},{"issue":"01","key":"ref2","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1055\/s-0037-1603937","article-title":"Inhibition of factors XI and XII for prevention of thrombosis induced by artificial surfaces","volume":"44","author":"B Tillman","year":"2018","journal-title":"Semin Thromb Hemost"},{"issue":"22","key":"ref3","doi-asserted-by":"crossref","first-page":"4296","DOI":"10.1182\/blood-2012-07-292094","article-title":"In vivo roles of factor XII","volume":"120","author":"T Renn\u00e9","year":"2012","journal-title":"Blood"},{"issue":"09","key":"ref4","first-page":"3006","article-title":"The elusive physiologic role of factor XII","volume":"118","author":"A H Schmaier","year":"2008","journal-title":"J Clin Invest"},{"issue":"04","key":"ref5","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1002\/rth2.12235","article-title":"Factor XII - 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Intron\/exon gene organization and analysis of the 5\u2032-flanking region","volume":"262","author":"D E Cool","year":"1987","journal-title":"J Biol Chem"},{"key":"ref15","first-page":"44","article-title":"Hereditary thrombophilia","volume":"90","author":"A Dautaj","year":"2019","journal-title":"Acta Biomed"},{"issue":"05","key":"ref16","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1182\/blood.2019000917","article-title":"Managing thromboembolic risk in patients with hereditary and acquired thrombophilias","volume":"135","author":"J Moran","year":"2020","journal-title":"Blood"},{"issue":"06","key":"ref17","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1002\/ana.24655","article-title":"Targeting coagulation factor XII as a novel therapeutic option in brain trauma","volume":"79","author":"S Hopp","year":"2016","journal-title":"Ann Neurol"},{"issue":"01","key":"ref18","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/s11239-015-1311-6","article-title":"The epidemiology of venous thromboembolism","volume":"41","author":"J A Heit","year":"2016","journal-title":"J Thromb Thrombolysis"}],"container-title":["H\u00e4mostaseologie"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-1962-1490.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,26]],"date-time":"2023-04-26T20:23:12Z","timestamp":1682540592000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-1962-1490"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,8]]},"references-count":18,"journal-issue":{"issue":"02","published-online":{"date-parts":[[2023,4,26]]},"published-print":{"date-parts":[[2023,4]]}},"URL":"https:\/\/doi.org\/10.1055\/a-1962-1490","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0720-9355","2567-5761"],"issn-type":[{"value":"0720-9355","type":"print"},{"value":"2567-5761","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,8]]}}}