A missense mutation in γ-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors

Blood

Volumn 92, Issue 12, 1998, Pages 4554-4559

  Brenner, Benjamin ^a   Sánchez Vega, Beatriz ^b   Wu, Sheue Mei ^b   Lanir, Naomi ^b   Stafford, Darrel W ^b   Solera, Jesus ^b  

^a RAMBAM MEDICAL CENTER   (Israel)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR; BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 7; BLOOD CLOTTING FACTOR 9; PROTHROMBIN; VITAMIN K DEPENDENT CARBOXYLASE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD CLOTTING FACTOR DEFICIENCY; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE ISOLATION; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION; PRIORITY JOURNAL;

EID: 0032535284     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v92.12.4554.424k42_4554_4559     Document Type: Article

References (24)

1. Esmon CT, Suttie JW, Jackson CM: The functional significance of vitamin K action: Difference in phospholipid binding between unusual and abnormal prothrombin. J Biol Chem 250:4095, 1975
2. Sperling R, Furie BC, Blumenstein M, Keyt B, Furie B: Metal binding properties of gamma-carboxyglutamic acid. Implication for the vitamin K-dependent blood coagulation proteins. J Biol Chem 253: 3898, 1978
3. Stenflo J, Ferlund P, Egan W, Roepstorff P: Vitamin K dependent modifications of glutamic acid residues in prothrombin. Proc Natl Acad Sci USA 71:2730, 1974
4. Morris DP, Stevens RD, Wright DJ, Stafford DW: Processive post-translational modification, vitamin K-dependent carboxylation of a peptide substrate. J Biol Chem 270:30498, 1995
5. Suttie JW: Vitamin K-dependent carboxylase (review). Annu Rev Biochem 54:459, 1985
6. McMillan CW, Roberts HR:Cogenital combined deficiency of coagulation factors II, VII, IX and X. N Engl J Med 274:1313, 1966
7. Chung KS, Bezeaud A, Goldsmith JC, McMillan CW, Menache D, Roberts HR: Congenital deficiency of blood clotting factors II, VII, IX and X. Blood 53:776, 1979
8. Johnson CA, Chung KS, McGrath KM, Bean PE, Roberts HR: Characterization of a variant prothrombin in a patient congenitally deficient in factors II,VII,IX and X. Br J Haematol 44:461, 1980
9. Goldsmith GH Jr, Pence RE, Ratnoff OD, Adelstein DJ, Furie B: Studies on a family with combined functional deficiencies of vitamin K-dependent coagulation factors. J Clin Invest 69:1253, 1982
10. Pauli RM, Lian JB, Mosher DF, Suttie JW: Association of congenital deficiency of multiple vitamin K-dependent coagulation factors and the phenotype of the warfarin embriopathy: Clues to the mechnism of teratogenecity of coumarin derivatives. Am J Hum Genet 41:566, 1987
11. Pechlaver C, Vogel W, Erhart R, Pümpel E, Kunz F: A new case of combined deficiency of vitamin K dependent coagulation factors. Thromb Haemost 68:617, 1992
12. Brenner B, Tavori S, Zivelin A, Keller CB, Suttie JW, Tatarsky I, Seligsohn U: Hereditary deficiency of all vitamin K-dependent procoagulants and anticoagulants. Br J Haematol 75:537, 1990
13. Vicente V, Maia R, Alberca I, Tamagnini GPT, Lopez-Borrasca A: Congenital deficiency of vitamin-K-dependent coagulation factors and protein C. Thromb Haemost 51:343, 1984
14. Wu SM, Cheung WF, Frazier LD, Stafford DW: Cloning and expression of the cDNA for human γ-glutamyl carboxylase. Science 254:1634, 1991
15. Kuo WL, Stafford DW, Cruces J, Gray J, Solera J: Chromosomal localization of the γ-glutamyl-carboxylase gene at 2pl.2. Genomics 25:746, 1995
16. Wu SM, Stafford DW, Frazier LD, High KA, Chu K, Sanchez-Vega B, Solera J: Genomic sequence and transcription start site for the human γ-glutamyl carboxylase. Blood 89:4058, 1997
17. Wu SM, Mutucumarana VP, Stafford DW. Purification of gamma-glutamyl carboxylase from bovine liver. Methods Enzymol 282:346, 1997
18. Wu SM, Stanley TB, Mutucumarana VP, Stafford DW. Characterization of the γ-glutamyl carboxylase. Thromb Haemost 78:599, 1997
19. Pan LC, Price PA: The propeptide of rat bone gamma-carboxyglutamic acid protein shares homology with other vitamin K-dependent protein precursors. Proc Natl Acad Sci USA 82:6109, 1985
20. Knobloch JE, Suttie JW: Vitamin K-dependent carboxylase. Control of enzyme activity by the "propeptide" region of factor X. J Biol Chem 262:15334, 1987
21. Ulrich MM, Furie B, Jacobs MR, Vermeer C, Furie BC: Vitamin K-dependent carboxylation. A synthetic peptide based upon the gamma-carboxylation recognition site sequence of the prothrombin propeptide is an active substrate for the carboxylase in vitro. J Biol Chem 263:9697, 1988
22. Sugiura I, Furie B, Walsh CT, Furie BC: Profactor IX propeptide and glutamate substrate binding sites on the vitamin K-dependent carboxylase identified by site-directed mutagenesis. J Biol Chem 271:17837, 1996
23. Wright DJ, Morris DP, Stafford DW: Vitamin K-dependent gamma-glutamyl carboxylase, in High KA, Roberts HR (eds): Molecular Basis of Thrombosis and Hemostasis. New York, NY, Marcel Dekker, 1995, p 309
24. Soute BAM, Ulrich MMW, Watson ADJ, Maddison JE, Ebberink RHM, Vermmer C: Congenital deficiency of all vitamin K-dependent blood coagulation factors due to a defective vitamin K-dependent carboxylase in Devon Rex cats. Thromb Haemost 68:521, 1992