{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:51:36Z","timestamp":1753890696217,"version":"3.41.2"},"reference-count":26,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T00:00:00Z","timestamp":1731456000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82200776"],"award-info":[{"award-number":["82200776"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province, China","doi-asserted-by":"publisher","award":["2023A1515012741, 2022A15150121394"],"award-info":[{"award-number":["2023A1515012741, 2022A15150121394"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cardiovasc. Med."],"abstract":"<jats:p>Factor XI deficiency is a rare inherited coagulation disorder with an estimated prevalence of affecting 1 in 1 million. It is characterized by mild and variable bleeding phenotypes, including bruises, nosebleeds, hematuria, and postpartum hemorrhage. It can be caused by either allelic or biallelic variants in <jats:italic>coagulation factor XI<\/jats:italic> (<jats:italic>F11<\/jats:italic>). Coagulation factor XI is a glycoprotein that circulates in plasma as a non-covalent complex with high-molecular-weight kininogen. It is converted to an active protease, coagulation factor XIa, which participates in blood coagulation as a catalyst. In this study, we recruited a family with Factor XI deficiency and identified two <jats:italic>F11<\/jats:italic> variants using whole-exome sequencing. One (NM_000128.4: c.841C&amp;gt;T, p.Q281X) was a known variant, and the other (NM_000128.4: c.1832T&amp;gt;G, p.V611G) had not been reported. In addition, we compiled the characteristics of known missense variants in <jats:italic>coagulation factor XI<\/jats:italic>. Our findings enriched the variant spectrum of Factor XI deficiency and contributed to the genetic counseling and molecular diagnostics of Factor XI deficiency.<\/jats:p>","DOI":"10.3389\/fcvm.2024.1461899","type":"journal-article","created":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T11:50:57Z","timestamp":1731498657000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Allelic and biallelic variants in coagulation factor XI cause factor XI deficiency"],"prefix":"10.3389","volume":"11","author":[{"given":"Chen","family":"Liang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie-Yuan","family":"Jin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hai-Hong","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao-Xian","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin-Lin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang-Hui","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiu-Li","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rui-Man","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2024,11,13]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1157","DOI":"10.1016\/j.hoc.2021.07.012","article-title":"Factor 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