Inherited factor V deficiency associated with a novel heterozygous missense mutation (p.G493R) in a patient with excessive surgical bleeding

Kitti B. Kovács; Bernadett Tisza; Komáromi István; László Muszbek; Zsuzsanna Bereczky

doi:10.1160/TH-09-04-0272

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 2009; 102(04): 787-789
DOI: 10.1160/TH-09-04-0272

Case Report

Schattauer GmbH

Inherited factor V deficiency associated with a novel heterozygous missense mutation (p.G493R) in a patient with excessive surgical bleeding

Kitti B. Kovács

¹Clinical Research Center, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary

,

Bernadett Tisza

²Haemostasis, Thrombosis and Vascular Biology Research Group of the Hungarian Academy of Sciences, Debrecen, Hungary

,

Komáromi István

²Haemostasis, Thrombosis and Vascular Biology Research Group of the Hungarian Academy of Sciences, Debrecen, Hungary

,

László Muszbek

¹Clinical Research Center, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary

²Haemostasis, Thrombosis and Vascular Biology Research Group of the Hungarian Academy of Sciences, Debrecen, Hungary

,

Zsuzsanna Bereczky

¹Clinical Research Center, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary

References
1 Kane WH Factor V. In: Colman RW, Marder VJ, Clowes AW. et al., eds. Hemostasis and Thrombosis. Philadelphia, PA: Lippincott Williams and Wilkins; 2006: 177-187.
2 Cai X-H, Wang X-F, Ding Q-L. et al. Factor V C1149G and 5609-10INSCGTGGTT causing factor V deficiency: Molecular characterization by in vitro expression. Thromb Haemost 2007; 98: 683-685.
3 Nicolaes GAF, Dahlbäck B. Factor V and Thrombotic Disease: Description of a Janus-Faced Protein. Arterioscler Thromb Vasc Biol 2002; 22: 530-538.
4 Delev D, Pavlova A, Heinz S. et al. Modelling and expression studies of two novel mutations causing factor V deficiency. Thromb Haemost 2008; 100: 766-772.
5 Mann KG, Kalafatis M. Factor V: a combination of Dr Jekyll and Mr Hyde. Blood 2003; 101: 20-30.
6 Asselta R, Tenchini ML, Duga S. Inherited defects of coagulation factor V: the hemorrhagic side. J Thromb Haemost 2006; 04: 26-34.
7 Van Wijk R, Nieuwenhuis K, van den Berg M. et al. Five novel mutations in the gene for coagulation factor V associated with type I factor V deficiency. Blood 2001; 98: 358-367.
8 Castoldi E, Lunghi B, Mingozzi F. et al. A missense mutation (Y1702C) in the coagulation factor V gene is a frequent cause of factor V deficiency in the Italian population. Haematologica 2001; 86: 629-633.
9 Steen M, Miteva M, Villoutreix BO. et al. Factor V New Brunswick: Ala221Val associated with FV deficiency reproduced in vitro and functionally characterized. Blood 2003; 102: 1316-1322.
10 Vos HL. An online database of mutations and polymorphisms in and around the coagulation factor V gene. J Thromb Haemost 2007; 05: 185-188.
11 Cripe LD, Moore KD, Kane WH. Structure of the gene for human coagulation factor V. Biochemistry 1992; 31: 3777-3785.
12 Jenny RJ, Pittman DD, Toole JJ. et al. Complete cDNA and derived amino acid sequence of human coagulation factor V. Proc Natl Acad Sci USA 1987; 84: 4846-4850.
13 Yamazaki T, Nicolaes GAF, Sørensen KW. et al. Molecular basis of quantitative factor V deficiency associated with factor V R2 haplotype. Blood 2002; 100: 2515-2521.
14 Bayston TA, Ireland H, Olds RJ. et al. A polymorphism in the human coagulation factor V gene. Hum Mol Genet 1994; 03: 2085.
15 Murray JM, Rand MD, Egan JO. et al. Factor V New Brunswick: Ala221-to-Val substitution results in reduced cofactor activity. Blood 1995; 86: 1820-1827.
16 Montefusco MC, Duga S, Asselta R. et al. Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations. Blood 2003; 102: 3210-3216.
17 Orban T, Kalafatis M, Gogonea V. Completed Three-Dimensional Model of Human Coagulation Factor Va. Molecular Dynamics Simulations and Structural Analyses. Biochemistry 2005; 44: 13082-13090.
18 Traynis I, Jones CD, Gibb CB. et al. First molecular characterization of a patient with combined factor V and factor VII deficiency. Thromb Haemost 2006; 95: 1031-1032.
19 Lunghi B, Scanavini D, Castoldi E. et al. The factor V Glu1608Lys mutation is recurrent in familial thrombophilia. J Thromb Haemost 2005; 03: 2032-2038.
20 Ajzner É, Balogh I, Szabó T. et al. Severe coagulation factor V deficiency caused by 2 novel frameshift mutations: 2952delT in exon 13 and 5493insG in exon 16 of factor V gene. Blood 2002; 99: 702-705.
21 van der Spoel D, Lindahl E, Hess B. et al. Groningen Machine for Chemical Simulations (GroMaCS) version 3.3. http://www.gromacs.org.
22 Kaminski GA, Friesner RA, Tirado-Rives J. et al. Evaluation and Reparametrization of the OPLS-AA Force Field for Proteins via Comparison with Accurate Quantum Chemical Calculations on Peptides. J Phys Chem 2001; 105: 6474-6487.
23 Jorgensen WL, Chandrasekhar J, Madura JD. et al. Comparison of simple potential functions for simulating liquid water. J Chem Phys 1983; 79: 926-935.
24 Darden T, York D, Pedersen L. Particle mesh Ewald: An N-log(N) method for Ewald sums in large systems. J Chem Phys 1993; 98: 10089-10092.