Congenital Deficiency of Vitamin K-Dependent Clotting Factors

References

References

1. Tie JK, Stafford DW. Structural and functional insights into enzymes of the vitamin K cycle. J Thromb Haemost 2016;14(2):236–47.

2. Stafford DW. The vitamin K cycle. J Thromb Haemost 2005;3(8):1873–8.

3. Sadler JE. K is for koagulation. Nature 2004;427:493–4.

4. Weston BW, Monahan PE. Familial deficiency of vitamin K-dependent clotting factors. Haemophilia 2008;14(6):1209–13.

5. De Vilder E, Debacker J, Vanakker O. GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations. IJMS 2017;18(2):240–34.

6. McMillan CW, Roberts HR. Congenital combined deficiency of coagulation factors II, VII, IX and X. Report of a case. N Engl J Med 1966;274(23):1313–5.

7. Jin D-Y, Ingram BO, Stafford DW, Tie J-K. Molecular basis of the first reported clinical case of congenital combined deficiency of coagulation factors. Blood 2017;130(7):948–51.

8. Czogalla KJ, Watzka M, Oldenburg J. VKCFD2 – from clinical phenotype to molecular mechanism. Hamostaseologie 2016;36:S13–S20.

9. Bhattacharyya J, Dutta P, Mishra P, et al. Congenital vitamin K-dependent coagulation factor deficiency: a case report. Blood Coagul Fibrinolysis 2005;16(7):525–7.

10. Wu SM, Cheung WF, Frazier D, Stafford DW. Cloning and expression of the cDNA for human gamma-glutamyl carboxylase. Science 1991;254(5038):1634–6.

11. Wu SM, Morris DP, Stafford DW. Identification and purification to near homogeneity of the vitamin K-dependent carboxylase. Proc Natl Acad Sci USA 1991;88(6):2236–40.

12. Li T, Chang C-Y, Jin D-Y, Lin P-J. Identification of the gene for vitamin K epoxide reductase. 2003;941(2000):541–4.

13. Rost S, Fregin A, Ivaskevicius V, et al. Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. Nature 2004;427(6974):537–41.

14. Fregin A, Rost S, Wolz W, Krebsova A, Muller CR, Oldenburg J. Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16. Blood 2002;100(9):3229–32.

15. Brenner B, Sánchez-Vega B, Wu SM, Lanir N, Stafford DW, Solera J. A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors. Blood 1998;92(12):4554–9.

16. Mutucumarana VP, Stafford DW, Stanley TB, et al. Expression and characterization of the naturally occurring mutation L394R in human gamma-glutamyl carboxylase. J Biol Chem 2000;275(42):32572–7.

17. Zhang B, Ginsburg D. Familial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disorders. J Thromb Haemost 2004;2(9):1564–72.

18. Kulman JD, Harris JE, Xie L, Davie EW. Identification of two novel transmembrane gamma-carboxyglutamic acid proteins expressed broadly in fetal and adult tissues. Proc Natl Acad Sci USA 2001;98(4):1370–5.

19. Grommes C, Lee CYD, Wilkinson BL, et al. Regulation of microglial phagocytosis and inflammatory gene expression by Gas6 acting on the Axl/Mer family of tyrosine kinases. J Neuroimmune Pharmacol 2008;3(2):130–40.

20. Hauschka PV, Lian JB, Cole DE, Gundberg CM. Osteocalcin and matrix Gla protein: vitamin K-dependent proteins in bone. Physiol Rev 1989;69(3):990–1047.

21. Watzka M, Geisen C, Scheer M, et al. Bleeding and non-bleeding phenotypes in patients with GGCX gene mutations. Thrombosis Research 2014;134(4):856–65.

22. Tie J-K, Carneiro JDA, Jin D-Y, Martinhago CD, Vermeer C, Stafford DW. Characterization of vitamin K–dependent carboxylase mutations that cause bleeding and nonbleeding disorders. Blood 2016;127(15):1847–55.

23. Dasi MA, Gonzalez-Conejero R, Izquierdo S, et al. Uniparental disomy causes deficiencies of vitamin K-dependent proteins. J Thromb Haemost 2016;14(12):2410–8.

24. De Vilder E, Debacker J, Vanakker O. GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations. IJMS 2017;18(2):240–34.

25. Czogalla KJ, Biswas A, Rost S, Watzka M, Oldenburg J. The Arg98Trp mutation in human VKORC1 causing VKCFD2 disrupts a di-arginine-based ER retention motif. Blood 2014;124(8):1354–62.

26. Zhu A, Sun H, Raymond RM Jr, et al. Fatal hemorrhage in mice lacking gamma-glutamyl carboxylase. Blood 2007;109(12):5270–5.

27. Spohn G, Kleinridders A, Wunderlich FT, et al. VKORC1 deficiency in mice causes early postnatal lethality due to severe bleeding. Thromb Haemost 2009;101(6):1044–50.

28. Tie JK, Stafford DW. Functional Study of the Vitamin K Cycle Enzymes in Live Cells. Meth Enzymol 2017;584:349–94.

29. Rost S, Geisen C, Fregin A, Seifried E, Muller CR, Oldenburg J. Founder mutation Arg485Pro led to recurrent compound heterozygous GGCX genotypes in two German patients with VKCFD type 1. Blood Coagul Fibrinolysis 2006;17(6):503–7.

30. Darghouth D, Hallgren KW, Shtofman RL, et al. Compound heterozygosity of novel missense mutations in the gamma-glutamyl-carboxylase gene causes hereditary combined vitamin K-dependent coagulation factor deficiency. Blood 2006;108(6):1925–31.

31. Thomas A, Stirling D. Four factor deficiency. Blood Coagul Fibrinolysis 14:S55–6.

32. Czogalla KJ, Biswas A, Wendeln A-C, et al. Human VKORC1 mutations cause variable degrees of 4-hydroxycoumarin resistance and affect putative warfarin binding interfaces. Blood 2013;122(15):2743–50.

33. Lapecorella M, Napolitano M, Bernardi F, et al. Effective hemostasis during minor surgery in a case of hereditary combined deficiency of vitamin K-dependent clotting factors. Clin Appl Thromb Hemost 2010;16(2):221–3.

34. Ichikawa T, Horie-Inoue K, Ikeda K, Blumberg B, Inoue S. Vitamin K2 induces phosphorylation of protein kinase A and expression of novel target genes in osteoblastic cells. J Mol Endocrinol 2007;39(4):239–47.

35. 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 embryopathy: clues to the mechanism of teratogenicity of coumarin derivatives. Am J Hum Genet 1987;41:566–583.

36. Kariminejad A, Bozorgmehr B, Najafi A, et al. Retinitis Pigmentosa, Cutis Laxa, and Pseudoxanthoma Elasticum–Like Skin Manifestations Associated with GGCX Mutations. Journal of Investigative Dermatology 2014;134(9):2331–8.

37. Vanakker OM, Martin L, Gheduzzi D, et al. Pseudoxanthoma Elasticum-Like Phenotype with Cutis Laxa and Multiple Coagulation Factor Deficiency Represents a Separate Genetic Entity. Journal of Investigative Dermatology 2007;127(3):581–7.

38. Cranenburg ECM, van Spaendonck-Zwarts KY, Bonafe L, et al. Circulating matrix γ-carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome. J Thromb Haemost 2011;9(6):1225–35.

39. Marchetti G, Caruso P, Lunghi B, et al. Vitamin K-induced modification of coagulation phenotype in VKORC1 homozygous deficiency. J Thromb Haemost 2008;6(5):797–803.

40. Tie JK, Jin DY, Straight DL, Stafford DW. Functional study of the vitamin K cycle in mammalian cells. Blood 2011;117(10):2967–74.

41. Leissinger CA, Blatt PM, Hoots WK, Ewenstein B. Role of prothrombin complex concentrates in reversing warfarin anticoagulation: a review of the literature. Am J Hematol 2008;83(2):137–43.

42. Fiore LD, Scola MA, Cantillon CE, Brophy MT. Anaphylactoid reactions to vitamin K. J Thromb Thrombolysis 2001;11(2):175–83.

43. Riegert-Johnson DL, Volcheck GW. The incidence of anaphylaxis following intravenous phytonadione (vitamin K1): a 5-year retrospective review. Ann Allergy Asthma Immunol 2002;89(4):400–6.

44. Centers for Disease Control (CDC). Neonatal deaths associated with use of benzyl alcohol–United States. MMWR Morb Mortal Wkly Rep 1982;31(22):290–1.

45. McMahon MJ, James AH. Combined deficiency of factors II, VII, IX, and X (Borgschulte-Grigsby deficiency) in pregnancy. Obstet Gynecol 2001;97:808–9.

46. Chung KS, Bezeaud A, Goldsmith JC, McMillan CW, Ménaché D, Roberts HR. Congenital deficiency of blood clotting factors II, VII, IX, and X. Blood 1979;53(4):776–87.