Severe prekallikrein deficiencies due to homozygous C529Y mutations

Blood Coagulation and Fibrinolysis

Volumn 18, Issue 3, 2007, Pages 283-286

  François, Dominique ^a   Trigui, Nawel ^b   Leterreux, Guillaume ^b   Flaujac, Claire ^c   Horellou, Marie Hélène ^c   Mazaux, Laurence ^a   Vignon, Dominique ^a   Conard, Jacqueline ^c   De Mazancourt, Philippe ^b  

^a FOCH HOSPITAL   (France)

^b RAYMOND POINCARÉ HOSPITAL   (France)

^c HÔTEL DIEU   (France)

Author keywords

Fletcher deficiency; Kallikrein; Mutation; Prekallikrein; Prekallikrein deficiency

Indexed keywords

PREKALLIKREIN;

ADULT; ARTICLE; BLOOD CLOTTING DISORDER; CASE REPORT; CEREBROVASCULAR ACCIDENT; CONSANGUINEOUS MARRIAGE; DISEASE SEVERITY; FEMALE; GENE MUTATION; HOMOZYGOSITY; HOSPITAL ADMISSION; HUMAN; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PREKALLIKREIN DEFICIENCY; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SECOND TRIMESTER ABORTION; SEQUENCE ANALYSIS;

ADULT; CEREBROVASCULAR ACCIDENT; FEMALE; HOMOZYGOTE; HUMANS; MIDDLE AGED; MUTATION, MISSENSE; PREGNANCY; PREGNANCY COMPLICATIONS; PREKALLIKREIN;

EID: 34247154917     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/MBC.0b013e328010bcde     Document Type: Article

References (17)

1. Kunapuli SP, Stark P, Rick L, Colman RW. Determination of gene structure by intron trapping using polymerase chain reaction: application to the human plasma prekallikrein gene. DNA Cell Biol 1995; 14:343-347.
2. Beaubien G, Rosinski-Chupin I, Mattei MG, Mbikay M, Chrétien M, Seidah NG. Gene structure and chromosomal localization of plasma kallikrein. Biochemistry 1991; 30:1628-1635.
3. Yu H, Anderson PJ, Freedman BI, Rich SS, Bowden DW. Genomic structure of the human plasma prekallikrein gene, identification of allelic variants, and analysis in end-stage renal disease. Genomics 2000; 69:225-234.
4. Yu H, Bowden DW, Spray BJ, Rich SS, Freedman BI. Identification of human plasma kallikrein gene polymorphisms and evaluation of their role in end-stage renal disease. Hypertension 1998; 31:906-911.
5. Chung DW, Fujikawa K, McMullen BA, Davie EW. Human plasma prekallikrein, a zymogen to a serine protease that contains four tandem repeats. Biochemistry 1986; 25:2410-2417.
6. Shariat-Madar Z, Mahdi F, Schmaier AH. Identification and characterization of prolylcarboxypeptidase as an endothelial cell prekallikrein activator. J Biol Chem 2002; 277:17962-17969.
7. Renné T, Dedio J, Meijers JCM, Chung D, Müller-Esterl W. Mapping of the discontinuous H-kininogen binding site of plasma prekallikrein Evidence for a critical role of apple domain-2. J Biol Chem 1999; 274:25777-25784.
8. Hathaway WE, Belhasen LP, Hathaway HS. Evidence for a new plasma thromboplastin factor I Case report, coagulation studies and physiochemical properties. Blood 1965; 26:521-532.
9. Shigekiyo T, Fujino O, Kanagawa Y, Matsumoto T. Prekallikrein (PK) Tokushima: PK deficiency caused by a Gly401->Glu mutation. J Thromb Haemost 2003; 1:1314-1316.
10. Lombardi AM, Sartori MT, Cabrio L, Fadin M, Zanon E, Girolami A. Severe prekallikrein (Fletcher factor) deficiency due to a compound heterozygosis (383Trp stop codon and Cys529Tyr). Thromb Haemost 2003; 90:1040-1045.
11. Jones DW, Russell G, Allford SL, Burdon K, Hawkins GA, Bowden DW, et al. Severe prekallikrein deficiency associated with homozygosity for an arg94stop nonsense mutation. Br J Haematol 2004; 127:220-223.
12. Jones DW, Gallimore MJ, MacKie IJ, Harris SL, Winter M. Reduced factor XII levels in patients with the antiphospholipid syndrome are associated with antibodies to factor XII. Br J Haematol 2000; 110:721-726.
13. Tang J, Yu CL, Williams SR, Springman E, Jeffery D, Sprengeler PA, et al. Expression, crystallization, and three-dimensional structure of the catalytic domain of human plasma kallikrein. J Biol Chem 2005; 280:41077-41089.
14. Halbmayer WM, Mannhalter C, Feichtinger C, Rubi K, Fischer M. The prevalence of factor XII deficiency in 103 orally anticoagulated outpatients suffering from recurrent venous and/or arterial thromboembolism. Thromb Haemost 1992; 68:285-290.
15. Girolami A, Ruzzon E, Lombardi AM, Cabrio L, Randi ML. Thrombosis-free surgical procedures in severe (homozygote) factor XII deficiency: report of four additional cases and literature review. Clin Appl Thromb Hemost 2004; 10:351-355.
16. DeLa Cadena RA. Fletcher factor deficiency in a 9-year-old girl: mechanisms of the contact pathway of blood coagulation. Am J Hematol 1995; 48:273-277.
17. Renne T, Pozgajova M, Gruner S, Schuh K, Pauer HU, Burfeind P, et al. Defective thrombus formation in mice lacking coagulation factor XII. J Exp Med 2005; 202:271-281.