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Hematology Volume 24, 2019 - Issue 1
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Case Report

Compound heterozygous mutations Glu502Lys and Met527Thr of the FXII gene in a patient with factor XII deficiency

Haiyue ZhangDepartment of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, People’s Republic of ChinaView further author information
,
Siqi LiuDepartment of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, People’s Republic of ChinaView further author information
,
Chanchan LinDepartment of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, People’s Republic of ChinaView further author information
,
Shasha LuoDepartment of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, People’s Republic of ChinaView further author information
,
Lihong YangDepartment of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, People’s Republic of ChinaView further author information
,
Yanhui JinDepartment of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, People’s Republic of ChinaView further author information
,
Liqing ZhuDepartment of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, People’s Republic of ChinaView further author information
&
Mingshan WangDepartment of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, People’s Republic of ChinaCorrespondence[email protected]
View further author information
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Pages 420-425 | Published online: 30 Mar 2019

References

  • Bjorkqvist J, Nickel KF, Stavrou E, et al. In vivo activation and functions of the protease factor XII. Thromb Haemost. 2014;112(5):868–875. doi: 10.1160/th14-04-0311
  • Dunn JT, Silverberg M, Kaplan AP. The cleavage and formation of activated human Hageman factor by autodigestion and by kallikrein. J Biol Chem. 1982;257(4):1779–1784.
  • Iijima K1, Arakawa Y, Sugahara Y, et al. Factor XII Osaka: abnormal factor XII with partially defective prekallikrein cleavage activity. Thromb Haemost. 2011;105(3):473–478. doi: 10.1160/TH10-02-0123
  • Cheng X, Yang L, Huang G, et al. Genetic analysis of a hereditary factor XII deficiency pedigree of a consanguineous marriage due to a homozygous FXII gene mutation: Gly341Arg. Hematology. 2017;22(5):310–315. doi: 10.1080/10245332.2016.1265210
  • Schmaier AH. The elusive physiologic role of factor XII. J Clin Invest. 2008;118:3006–3009.
  • Müller F1, Renné T. Novel roles for factor XII-driven plasma contact activation system. Curr Opin Hematol. 2008;15:516–521. doi: 10.1097/MOH.0b013e328309ec85
  • Lämmle B, Wuillemin WA, Huber I, et al. Thromboembolism and bleeding tendency in congenital factor XII deficiency - a study on 74 subjects from 14 Swiss families. Thromb Haemost. 1991;65(2):117–121. doi: 10.1055/s-0038-1647467
  • Saito H. Contact factors in health and disease. Semin Thromb Hemost. 1987;13:36–49. doi: 10.1055/s-2007-1003474
  • Singhamatr P, Kanjanapongkul S, Rojnuckarin P. Molecular analysis of factor XII gene in Thai patients with factor XII deficiency. Blood Coagul Fibrinolysis. 2013;24(6):599–604. doi: 10.1097/MBC.0b013e32835fde9d
  • Kwon MJ, Kim HJ, Lee KO, et al. Molecular genetic analysis of Korean patients with coagulation factor XII deficiency. Blood Coagul Fibrinolysis. 2010;21(4):308–312. doi: 10.1097/MBC.0b013e32833449df
  • Kanaji T, Kanaji S, Osaki K, et al. Identification and characterization of two novel mutations (Q421 K and R123P) in congenital factor XII deficiency. Thromb Haemost. 2001;86(6):1409–1415. doi: 10.1055/s-0037-1616743
  • Lombardi AM, Bortoletto E, Scarparo P, et al. Genetic study in patients with factor XII deficiency: a report of three new mutations exon 13 (Q501STOP), exon 14 (P547L) and -13C > T promoter region in three compound heterozygotes. Blood Coagul Fibrinolysis. 2008;19(7):639–643. doi: 10.1097/MBC.0b013e32830d8629
  • Pauer HU1, Renné T, Hemmerlein B, et al. Targeted deletion of murine coagulation factor XII gene-a model for contact phase activation in vivo. Thromb Haemost. 2004;92(3):503–508. doi: 10.1160/TH04-04-0250
  • Renné T, Pozgajová M, Grüner S, et al. Defective thrombus formation in mice lacking coagulation factor XII. J Exp Med. 2005;202(2):271–281. doi: 10.1084/jem.20050664
  • Yang L, Wang Y, Zhou J, et al. Identification of genetic defects Underlying FXII deficiency in four Unrelated Chinese patients. Acta Haematol. 2016;135(4):238–240. doi: 10.1159/000444209
  • Jin P, Jiang W, Yan H, et al. Novel mutations in congenital factor XII deficiency. Front Biosci (Landmark Ed). 2016;21:419–429. doi: 10.2741/4422
  • Li J, Guan X, Liu O, et al. Changes in coagulation factor XII and its function during aortic arch surgery for acute aortic dissection-a prospective observational study. J Thorac Dis. 2018;10(7):4006–4016. doi: 10.21037/jtd.2018.06.127
  • Oguchi S, Ishii K, Moriki T, et al. Factor XII Shizuoka, a novel mutation (Ala392Thr) identified and characterized in a patient with congenital coagulation factor XII deficiency. Thromb Res. 2005;115(3):191–197. doi: 10.1016/j.thromres.2004.08.027
  • Schloesser M, Zeerleder S, Lutze G, et al. Mutations in the human factor XII gene. Blood. 1997;90(10):3967–3977.
  • Suzuki K, Murai K, Suwabe A, et al. Factor XII Ofunato: Lys346Asn mutation associated with blood coagulation factor XII deficiency causes impaired secretion through a proteasome-mediated degradation. Thromb Res. 2010;125:438–443. doi: 10.1016/j.thromres.2009.12.004

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