{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T23:52:24Z","timestamp":1791417144594,"version":"4.3.3"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T00:00:00Z","timestamp":1783987200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T00:00:00Z","timestamp":1791417600000},"content-version":"vor","delay-in-days":86,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"name":"Shandong Provincial Medical and Health Science and Technology Development Program","award":["202511000163"],"award-info":[{"award-number":["202511000163"]}]},{"name":"2024 Key Science and Technology Research Project of Shandong Provincial Geriatrics Society","award":["LKJGG2024W021"],"award-info":[{"award-number":["LKJGG2024W021"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"DOI":"10.1186\/s13256-026-06308-0","type":"journal-article","created":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T04:34:43Z","timestamp":1784003683000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Molecular and clinical characterization of a pedigree with factor XI deficiency, including a novel missense variant (p.Cys200Phe): a case report"],"prefix":"10.1186","volume":"20","author":[{"given":"Ruimin","family":"Cai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yeke","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenyang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Feng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,7,14]]},"reference":[{"key":"6308_CR1","unstructured":"Factor XI Mutation Database. http:\/\/www.factorxi.org\/"},{"key":"6308_CR2","doi-asserted-by":"publisher","first-page":"1315","DOI":"10.1007\/s11239-024-02972-5","volume":"57","author":"AE Ali","year":"2024","unstructured":"Ali AE, Becker RC. Factor XI: structure, function and therapeutic inhibition. J Thromb Thrombolysis. 2024;57:1315\u201328.","journal-title":"J Thromb Thrombolysis"},{"key":"6308_CR3","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1016\/j.bcmd.2016.01.004","volume":"58","author":"Y Shao","year":"2016","unstructured":"Shao Y, Cao Y, Lu Y, Dai J, Ding Q, Wang X, et al. Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China. Blood Cells Mol Dis. 2016;58:29\u201334.","journal-title":"Blood Cells Mol Dis"},{"key":"6308_CR4","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1111\/j.1538-7836.2004.01088.x","volume":"3","author":"NM O'Connell","year":"2005","unstructured":"O\u2019Connell NM, Saunders RE, Lee CA, Perry DJ, Perkins SJ. Structural interpretation of 42 mutations causing factor XI deficiency using homology modeling. J Thromb Haemost. 2005;3:127\u201338.","journal-title":"J Thromb Haemost"},{"key":"6308_CR5","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1055\/s-0037-1616203","volume":"86","author":"PN Walsh","year":"2001","unstructured":"Walsh PN. Roles of platelets and factor XI in the initiation of blood coagulation by thrombin. Thromb Haemost. 2001;86:75\u201382.","journal-title":"Thromb Haemost"},{"key":"6308_CR6","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1097\/MBC.0000000000000857","volume":"30","author":"X Zhou","year":"2019","unstructured":"Zhou X, Zhang H, Wang M, Luo S, Liu S, Jin Y, et al. Genetic analysis of a pedigree with hereditary coagulation factor XI deficiency. Blood Coagul Fibrinolysis. 2019;30:413\u20138.","journal-title":"Blood Coagul Fibrinolysis"},{"key":"6308_CR7","doi-asserted-by":"publisher","first-page":"509","DOI":"10.3892\/etm.2023.12208","volume":"26","author":"T Kato","year":"2023","unstructured":"Kato T, Yamada M, Watanabe T, Yamanaka S, Fukuhara S, Nakao K. Congenital factor XI deficiency with multiple tooth extractions (Case report). Exp Ther Med. 2023;26:509.","journal-title":"Exp Ther Med"},{"key":"6308_CR8","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1080\/17474086.2020.1772745","volume":"13","author":"AP Wheeler","year":"2020","unstructured":"Wheeler AP, Hemingway C, Gailani D. The clinical management of factor XI deficiency in pregnant women. Expert Rev Hematol. 2020;13:719\u201329.","journal-title":"Expert Rev Hematol"},{"key":"6308_CR9","doi-asserted-by":"publisher","first-page":"1157","DOI":"10.1016\/j.hoc.2021.07.012","volume":"35","author":"MD Lewandowska","year":"2021","unstructured":"Lewandowska MD, Connors JM. Factor XI deficiency. Hematol Oncol Clin North Am. 2021;35:1157\u201369.","journal-title":"Hematol Oncol Clin North Am"},{"issue":"3","key":"6308_CR10","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1159\/000527952","volume":"146","author":"S Ge","year":"2023","unstructured":"Ge S, Luo Y, Dong R, Guo X, Wang M, Chen Y. Two novel heterozygous mutations (p.\u03b3Phe230Val and p.A\u03b1Asn839Thr) cause hereditary hypodysfibrinogenemia in two Chinese independent families. Acta Haematol. 2023;146(3):252\u20138.","journal-title":"Acta Haematol"},{"key":"6308_CR11","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-024-03235-5","volume":"19","author":"K Zhang","year":"2024","unstructured":"Zhang K, Qin L, Xu F, Ye L, Wen M, Pan J, et al. The spectrum of factor XI deficiency in Southeast China: four recurrent variants can explain most of the deficiencies. Orphanet J Rare Dis. 2024;19: 224.","journal-title":"Orphanet J Rare Dis"},{"key":"6308_CR12","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1097\/00062752-200009000-00002","volume":"7","author":"BN Bouma","year":"2000","unstructured":"Bouma BN, Meijers JC. Role of blood coagulation factor XI in downregulation of fibrinolysis. Curr Opin Hematol. 2000;7:266\u201372.","journal-title":"Curr Opin Hematol"},{"key":"6308_CR13","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1182\/blood.V65.3.719.719","volume":"65","author":"MV Ragni","year":"1985","unstructured":"Ragni MV, Sinha D, Seaman F, Lewis JH, Spero JA, Walsh PN. Comparison of bleeding tendency, factor XI coagulant activity, and factor XI antigen in 25 factor XI-defcient kindreds. Blood. 1985;65:719\u201324.","journal-title":"Blood"},{"key":"6308_CR14","doi-asserted-by":"publisher","first-page":"P1687","DOI":"10.1111\/j.1538-7836.2003.tb05452.x","volume":"1","author":"PH Bolton-Maggs","year":"2003","unstructured":"Bolton-Maggs PH, Butler R, Mountford R, Gailani D. Eleven novel mutations in non-Jewish factor XI deficient kindreds detected by SSCP with heteroduplex analysis followed by sequencing. J Thromb Haemost. 2003;1:P1687.","journal-title":"J Thromb Haemost"},{"key":"6308_CR15","doi-asserted-by":"publisher","first-page":"829","DOI":"10.1002\/humu.9439","volume":"27","author":"M Mitchell","year":"2006","unstructured":"Mitchell M, Mountford R, Butler R, Alhaq A, Dai L, Savidge G, et al. Spectrum of factor XI (F11) mutations in the UK population\u2013116 index cases and 140 mutations. Hum Mutat. 2006;27:829.","journal-title":"Hum Mutat"},{"issue":"1","key":"6308_CR16","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1177\/1076029609355587","volume":"17","author":"E Berber","year":"2011","unstructured":"Berber E. Molecular characterization of FXI deficiency. Clin Appl Thromb Hemost. 2011;17(1):27\u201332.","journal-title":"Clin Appl Thromb Hemost"},{"key":"6308_CR17","first-page":"126","volume":"24","author":"WM Wu","year":"2003","unstructured":"Wu WM, Wang HL, Wang XF, Chu HY, Fu QH, Ding QL, et al. Identification of two novel factor XI non-sense mutation Trp228stop and Trp383stop in a Chinese pedigree of congenital factor XI deficiency. Zhonghua Xue Ye Xue Za Zhi. 2003;24:126\u20138.","journal-title":"Zhonghua Xue Ye Xue Za Zhi"},{"key":"6308_CR18","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1038\/nsmb.1550","volume":"16","author":"S Brogna","year":"2009","unstructured":"Brogna S, Wen J. Nonsense-mediated mRNA decay (NMD) mechanisms. Nat Struct Mol Biol. 2009;16:107\u201313.","journal-title":"Nat Struct Mol Biol"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13256-026-06308-0","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-026-06308-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-026-06308-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T23:45:32Z","timestamp":1791416732000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s13256-026-06308-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,14]]},"references-count":18,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["6308"],"URL":"https:\/\/doi.org\/10.1186\/s13256-026-06308-0","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,14]]},"assertion":[{"value":"19 April 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 June 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 July 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"All procedures performed in studies involving human participants were conducted in accordance with the ethical standards of the institutional and\/or national research committee and in line with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.The study received approval from the Ethics Committee of The Affiliated Taian City Central Hospital of Qingdao University (Approval No.:2025\u201306-171). Informed consent was obtained from all family members for their participation in the study.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":2,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"603"}}