Severe congenital factor XIII deficiency caused by novel W187X and G273V mutations in the F13A gene; Diagnosis and classification according to the ISTH/SSC guidelines

Haemophilia

Volumn 20, Issue 2, 2014, Pages 255-262

  Souri, M ^a   Biswas, A ^b   Misawa, M ^c   Omura, H ^d   Ichinose, A ^a  

^a YAMAGATA UNIVERSITY   (Japan)

^b UNIVERSITY HOSPITAL BONN   (Germany)

^c Department of Cardiovascular Surgery   (Japan)

^d TOTTORI PREFECTURAL CENTRAL HOSPITAL   (Japan)

Author keywords

2 plasmin inhibitor; Factor XIII concentrates; Fibrin crosslinking; Hereditary haemorrhaphilia; Molecular modelling; Plasma transglutaminase

Indexed keywords

FACTOR XIII CONCENTRATES; FIBRIN CROSSLINKING; HEREDITARY HAEMORRHAPHILIA; MOLECULAR MODELLING; PLASMA TRANSGLUTAMINASE; Α2-PLASMIN INHIBITOR;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CODON; FACTOR XIII; FACTOR XIII DEFICIENCY; HETEROZYGOTE; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PRACTICE GUIDELINES AS TOPIC; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT; SEVERITY OF ILLNESS INDEX;

EID: 84894274002     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/hae.12298     Document Type: Article

References (24)

1. Ichinose A. Extracellular transglutaminase: factor XIII. Prog Exp Tumor Res 2005; 38: 192-208.
2. Muszbek L, Bereczky Z, Bagoly Z, Komáromi I, Katona É. Factor XIII: a coagulation factor with multiple plasmatic and cellular functions. Physiol Rev 2011; 91: 931-72.
3. Hsieh L, Nugent D. Factor XIII deficiency. Haemophilia 2008; 14: 1190-200.
4. Biswas A, Ivaskevicius V, Seitz R, Thomas A, Oldenburg J. An update of the mutation profile of Factor 13 A and B genes. Blood Rev 2011; 25: 193-204.
5. Ichinose A. Factor XIII is a key molecule at the intersection of coagulation and fibrinolysis as well as inflammation and infection control. Int J Hematol 2012; 95: 362-70.
6. Koseki S, Souri M, Koga S et al. Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation. Blood 2001; 97: 2667-72.
7. Ivaskevicius V, Biswas A, Loreth R et al. Mutations affecting disulphide bonds contribute to a fairly common prevalence of F13B gene defects: results of a genetic study in 14 families with factor XIII B deficiency. Haemophilia 2010; 16: 675-82.
8. Wada H, Souri M, Matsumoto R, Sugihara T, Ichinose A. Alloantibodies against the B subunit of plasma factor XIII developed in its congenital deficiency. Thromb Haemost 2013; 109: 661-8.
9. Ichinose A. Hemorrhagic Acquired Factor XIII (13) Deficiency and Acquired Hemorrhaphilia 13 Revisited. Semin Thromb Hemost 2011; 37: 382-8.
10. Ichinose A, Souri M; Japanese collaborative research group on "Acquired haemorrha-philia due to factor XIII deficiency". As many as 12 cases with haemorrhagic acquired factor XIII deficiency due to its inhibitors were recently found in Japan. Thromb Haemost 2011; 105: 925-7.
11. Ichinose A, Souri M. Reduced difference of α(2)-plasmin inhibitor levels between plasma and serum in patients with severe factor XIII deficiency, including autoimmune hemorrhaphilia due to anti-factor XIII antibodies. Int J Hematol 2012; 95: 47-50.
12. Kohler HP, Ichinose A, Seitz R, Ariens RAS, Muszbek L. Diagnosis and classification of factor XIII deficiencies. J Thromb Haemost 2011; 9: 1404-6.
13. Souri M, Kaetsu H, Ichinose A. Sushi domains in the B subunit of factor XIII responsible for oligomer assembly. Biochemistry 2008; 47: 8656-64.
14. Souri M, Yee VC, Fujii N, Ichinose A. Molecular modeling predicts structural changes in the A subunit of factor XIII caused by two novel mutations identified in a neonate with severe congenital factor XIII deficiency. Thromb Res 2012; 130: 506-10.
15. Lorand L, Urayama T, De KJ, Nossel HLDiagnostic, genetic sof-sfwanaboai. J Clin Invest 1969; 48: 1054-64.
16. Ichinose A, Davie EW. Characterization of the gene for the a subunit of human factor XIII (plasma transglutaminase), a blood coagulation factor. Proc Natl Acad Sci USA 1988; 85: 5829-33.
17. Takahashi N, Tsukamoto H, Umeyama H, Castaman G, Rodeghiero F, Ichinose A. Molecular mechanisms of type II factor XIII deficiency: novel Gly562-Arg mutation and C-terminal truncation of the A subunit cause factor XIII deficiency as characterized in a mammalian expression system. Blood 1998; 91: 2830-8.
18. Weiss MS, Metzner HJ, Hilgenfeld R. Two non-proline cis peptide bonds may be important for factor XIII function. FEBS Lett 1998; 27: 423.
19. Krieger E, Koraimann G, Vriend G. Increasing the precision of comparative models with YASARA NOVA-a self-parameterizing force field. Proteins 2002; 47: 393-402.
20. Ajzner E′, Muszbek L. Prophylactic and perioperative replacement therapy for acquired factor XIII deficiency: a rebuttal. (Kinetic spectrophotometric factor XIII activity assays: the subtraction of plasma bank is not omissible). J Thromb Haemost 2004; 2: 2075-7.
21. Lovejoy AE, Reynolds TC, Visich JE et al. Safety and pharmacokinetics of recombinant factor XIII-A2 administration in patients with congenital factor XIII deficiency. Blood 2006; 108: 57-62.
22. Tokunaga F, Muta T, Iwanaga S et al. Limulus hemocyte transglutaminase. cDNA cloning, amino acid sequence, and tissue localization. J Biol Chem 1993; 268: 262-8.
23. Trinh CH, Sh Elsayed W, Eshghi P et al. Molecular analysis of sixteen unrelated factor XIIIA deficient families from south-east of Iran. Br J Haematol 2008; 140: 581-4.
24. Eshghi P, Cohan N, Lak M et al. Arg77His and Trp187Arg are the most common mutations causing FXIII deficiency in Iran. Clin Appl Thromb Hemost 2012; 18: 100-3.