1,187
Views
0
CrossRef citations to date
0
Altmetric
Research Article

Phenotypic and genetic analyses of four cases of coagulation factor XII deficiency

, , , , , , & show all

References

  • Tans G, Rosing J. Structural and functional characterization of factor XII. Semin Thromb Hemost. 1987;13:1–14. doi:10.1055/s-2007-1003471.
  • Cool DE, MacGillivray RT. Characterization of the human blood coagulation factor XII gene. intron/exon gene organization and analysis of the 5'-flanking region. J Biol Chem. 1987;262:13662–13673. doi:10.1055/s-0038-1642800.
  • McMullen BA, Fujikawa K. Amino acid sequence of the heavy chain of human alpha-factor XIIa (activated Hageman factor). J Biol Chem. 1985;260:5328–5341. doi:10.1016/0165-022X(85)90070-3.
  • Renne T, Schmaier AH, Nickel KF, et al. In vivo roles of factor XII. Blood. 2012;120:4296–4303. doi:10.1182/blood-2012-07-292094.
  • Jingxuan L CCB, Akin A, James B, et al. Knockdown of liver-derived factor XII by GalNAc-siRNA ALN-F12 prevents thrombosis in mice without impacting hemostatic function. Thromb Res. 2020;196:200–205. doi:10.1016/j.thromres.2020.08.040.
  • Fernandes HD, Newton S, Rodrigues JM. Factor XII deficiency mimicking bleeding diathesis: A unique presentation and diagnostic pitfall. Cureus. 2018;10:2817, doi:10.7759/cureus.2817.
  • Mirjam B, Christian N, Tobias H, et al. Influence of factor XII deficiency on activated partial thromboplastin time (APTT) in critically ill patients. J Thromb Thrombolysis. 2019;48:466–474. doi:10.1007/s11239-019-01879-w.
  • Juang LJ, Mazinani N, Novakowski SK, et al. Coagulation factor XII contributes to hemostasis when activated by soil in wounds. Blood Adv. 2020;4:1737–1745. doi:10.1182/bloodadvances.2019000425.
  • Johansson K, Johansson L, Nilsson TK, et al. Factor XII concentrations and risk of intracerebral haemorrhage. A prospective case-referent study. J Stroke Cerebrovasc Dis. 2021;30:105565, doi:10.1016/j.jstrokecerebrovasdis.2020.105565.
  • Puy C, Rigg RA, McCarty OJ. The hemostatic role of factor XI. Thromb Res. 2016;141(Suppl 2):S8–S11. doi:10.1016/S0049-3848(16)30354-1.
  • Maroney SA, Cooley BC, Ferrel JP, et al. Absence of hematopoietic tissue factor pathway inhibitor mitigates bleeding in mice with hemophilia. Proc Natl Acad Sci U S A. 2012;109:3927–3931. doi:10.1073/pnas.1119858109.
  • Zucker M, Seligsohn U, Salomon O, et al. Abnormal plasma clot structure and stability distinguish bleeding risk in patients with severe factor XI deficiency. J Thromb Haemost. 2014;12:1121–1130. doi:10.1111/jth.12600.
  • He R, Chen D, He S. Factor XI: hemostasis, thrombosis, and antithrombosis. Thromb Res. 2012;129:541–550. doi:10.1016/j.thromres.2011.11.051.
  • Schloesser M, Hofferbert S, Bartz U, et al. The novel acceptor splice site mutation 11396(G–>A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients. Hum Mol Genet. 1995;4:1235–1237. doi:10.1093/hmg/4.7.1235.
  • 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(5):438–443. doi:10.1016/j.thromres.2009.12.004.
  • Liu M, Wang H, Lin M, et al. A novel homozygous missense mutation (Met527Ile) in a consanguineous marriage family with inherited factor XII deficiency. Hematology. 2020;25(1):502–506. doi:10.1080/16078454.2020.1859249.
  • Wang Y, Zhang H, Liu S, et al. Double heterozygous mutations (Cys247Tyr and 252delAsn) cause factor XII deficiency in a Chinese family. Hamostaseologie. 2020;40:650–654. doi:10.1055/a-1181-0390.
  • Zhang H, Liu S, Lin C, et al. Compound heterozygous mutations Glu502Lys and Met527Thr of the FXII gene in a patient with factor XII deficiency. Hematology. 2019;24:420–425. doi:10.1080/16078454.2019.1598679.
  • Kondo S, Tokunaga F, Kawano S, et al. Factor XII tenri, a novel cross-reacting material negative factor XII deficiency, occurs through a proteasome-mediated degradation. Blood. 1999;93:4300–4308. doi:10.1016/S0887-7963(99)80035-2.
  • 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;115:191–197. doi:10.1016/j.thromres.2004.08.027.
  • Iijima K, Arakawa Y, Sugahara Y, et al. Factor XII Osaka: abnormal factor XII with partially defective prekallikrein cleavage activity. Thromb Haemostasis. 2011;105:473–478. doi:10.1160/TH10-02-0123.
  • Miyata T, Kawabata S, Iwanaga S, et al. Coagulation factor XII (Hageman factor) Washington D.C.: inactive factor XIIa results from Cys-571-Ser substitution. Proc Natl Acad Sci U S A. 1989;86:8319–8322. doi:10.1073/pnas.86.21.8319.
  • Subramaniam S, Thielmann I, Morowski M, et al. Defective thrombus formation in mice lacking endogenous factor VII activating protease (FSAP). Thromb Haemostasis. 2015;113:870–880. doi:10.1160/TH14-06-0519.
  • Cheng Q, Tucker EI. Pine MS, et al. A role for factor XIIa-mediated factor XI activation in thrombus formation in vivo. Blood. 2010;116:3981–3989. doi:10.1182/blood-2010-02-270918.
  • Hopp S, Albert-Weissenberger C, Mencl S, et al. Targeting coagulation factor XII as a novel therapeutic option in brain trauma. Ann Neurol. 2016;79:970–982. doi:10.1002/ana.24655.