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CASE REPORT article
Front. Cardiovasc. Med.
Sec. Cardiovascular Genetics and Systems Medicine
Volume 11 - 2024 |
doi: 10.3389/fcvm.2024.1461899
This article is part of the Research Topic Case Reports in Cardiovascular Genetics and Systems Medicine: 2024 View all 7 articles
Allelic and Biallelic Variants in Coagulation factor XI Causing Factor XI Deficiency
Provisionally accepted- 1 First Affiliated Hospital of Jinan University, Guangzhou, Guangdong Province, China
- 2 Central South University, Changsha, China
- 3 Jiangmen Maternity and Child Health Care Hospital, Jiangmen, Guangdong Province, China
- 4 Xiangya Hospital, Central South University, Changsha, Hunan Province, China
Factor XI deficiency is a rare inherited coagulation disorder with an estimated prevalence of one in one million. It is characterized by mild and variable bleeding phenotypes, including bruises, nosebleeds, hematuresis, and postpartum hemorrhage. It can be caused by either allelic or biallelic variants in Coagulation factor XI (F11).Coagulation factor XI is a glycoprotein that circulates in plasma as a noncovalent 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 F11 variants using whole-exome sequencing (WES). One (NM_000128.4: c.841C>T, p.Q281X) was a known variant, and another (NM_000128.4: c.1832T>G, p.V611G) had not been reported. Additionally, we compiled the characteristics of known missense variants in coagulation factor XI. Our findings enriched the variant spectrum of Factor XI deficiency and contributed to the genetic counseling and molecular diagnostics of Factor XI deficiency.
Keywords: Factor XI Deficiency, Hemophilia, coagulation factor XI, Variant characteristic, missense variant
Received: 09 Jul 2024; Accepted: 21 Oct 2024.
Copyright: © 2024 Liang, Jin, Shi, Li, Chen, Zhang, Wang, Li and Li. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Jie-Yuan Jin, Central South University, Changsha, China
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