Severe perinatal thrombosis in double and triple heterozygous offspring of a family segregating two independent protein S mutations and a protein C mutation

Blood

Volumn 87, Issue 9, 1996, Pages 3731-3737

  Formstone, Caroline J ^a   Hallam, Paula J ^a,b   Tuddenham, Edward G D ^c   Voke, Jennifer ^c   Layton, Mark ^c   Nicolaides, Kypros ^c   Hann, Ian M ^c   Cooper, David N ^a  

^a THROMBOSIS RESEARCH INSTITUTE   (United Kingdom)

^b NORTHWICK PARK HOSPITAL   (United Kingdom)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN C; PROTEIN S;

ARTICLE; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GENE SEGREGATION; GENOTYPE; HETEROZYGOSITY; HUMAN; MALE; MOLECULAR GENETICS; NEWBORN; PERINATAL MORBIDITY; PHENOTYPE; PRIORITY JOURNAL; PROGENY; PROTEIN C DEFICIENCY; PROTEIN S DEFICIENCY; THROMBOSIS;

EID: 0029981830     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v87.9.3731.bloodjournal8793731     Document Type: Article

References (45)

1. Dahlbäck B, Stenflo J: A natural anticoagulant pathway: Proteins C, S, C4b-binding protein and thrombomodulin, in Bloom AL, Forbes CD, Thomas DP, Tuddenham EGD (eds): Haemostasis and Thrombosis (ed 3). Edinburgh, Scotland, Churchill Livingstone, 1994, p 671
2. Dahlbäck B: Protein S and C4b-binding protein: Components involved in the regulation of the protein C anticoagulant system. Thromb Haemost 66:49, 1991
3. Shen L, Dahlbäck B: Factor V and protein S as synergistic cofactors to activated protein C in degradation of factor VIIIa. J Biol Chem 269:18735, 1994
4. Heeb MJ, Mester RM, Tans G, Rosing J, Griffin JH: Binding of protein S to factor Va associated with inhibition of prothrombinase that is independent of activated protein C. J Biol Chem 268:2872, 1993
5. Heeb MJ, Rosing J, Bakker HM, Fernandez JA, Tans G, Griffin JH: Protein S binds to and inhibits Factor Xa. Proc Natl Acad Sci USA 91:2728, 1994
6. Koppelman SJ, Hackeng TM, Sixma JJ, Bouma BN: Inhibition of the intrinsic Factor X activating complex by protein S: Evidence for a specific binding of protein S to factor VIII. Blood 86:1062, 1985
7. Dahlbäck B, Stenflo J: High molecular weight complex in human plasma between vitamin K-dependent protein S and complement component C4b-binding protein. Proc Natl Acad Sci USA 78:2512, 1981
8. Dahlbäck B: Inhibition of protein Ca cofactor function of human and bovine protein S by C4b-binding protein. J Biol Chem 261:12022, 1986
9. Plutzky J, Hoskins JA, Long GL, Crabtree GR: Evolution and organization of the human protein C gene. Proc Natl Acad Sci USA 83:546, 1986
10. Schmidel DK, Tatro AV, Phelps LG, Tomczak JA, Long GL: Organization of the human protein S genes. Biochemistry 29:7845, 1990
11. Henkens CMA, van der Meer J, Hillege JL, van der Schaaf W, Bom VJJ, Halie MR: The clinical expression of hereditary protein C and protein S deficiency: A relation to clinical thrombotic risk factors and to levels of protein C and S? Blood Coagul Fibrinolysis 4:555, 1993
12. Bertina R: Prevalence of hereditary thrombophilia and the identification of genetic risk factors. Fibrinolysis 2:7, 1988 (Suppl 2)
13. Bertina RM, Broekmans AW, Krommeuhaevan ESC, van Wijngaarden A: The use of a functional and immunologic assay for plasma protein C in the study of the heterogeneity of congenital protein C deficiency. Thromb Haemost 51:1, 1984
14. Scientific and Standardisation Committee of the International Society of Thrombosis and Haemostasis Subcommittee on protein C and protein S, München, July 1992
15. Broekmans AW, Veltkamp JJ, Bertina RM: Congenital protein C deficiency and venous thromboembolism. New Engl J Med 309:340, 1983
16. Gladson CL, Scharrer I, Hach V, Beck KH, Griffin JH: The frequency of type I heterozygous protein S and protein C deficiency in 141 unrelated young patients with venous thrombosis. Thromb Haemost 59:18, 1988
17. Branson HE, Kaze J, Marble R, Griffin JH: Inherited protein C deficiency and coumarin responsive chronic relapsing purpura fulminans in a newborn infant. Lancet 2:1165, 1983
18. Marlar RA, Montgomery RR, Broekmans AW: Diagnosis and treatment of homozygous protein C deficiency. J Pediatr 114:528, 1989
19. Seligsohn U, Berger A, Abend M, Rubin L, Attias D, Zivelin A, Rapaport SI: Homozygous protein C deficiency manifested by massive thrombosis in the newborn. New Engl J Med 310:559, 1984
20. Marciniak E, Wilson HD, Marlar RA: Neonatal purpura fulminans: A genetic disorder related to the absence of protein C in blood. Blood 65:15, 1985
21. Manco-Johnson MJ, Marlar RA, Jacobson LJ, Hays T, Waraday BA: Severe protein C deficiency in newborn infants. J Pediatr 113:359, 1988
22. Mahasandana C, Suvatte V, Marlar RA, Manco-Johnson MJ, Jacobson LJ, Hathaways WE: Neonatal purpura fulminans associated with homozygous protein S deficiency. Lancet 335:61, 1990
23. Pegelow CH, Ledford M, Young J, Zilleruelo G: Severe protein S deficiency in a newborn. Pediatrics 89:674, 1992
24. Marlar RA, Neumann A: Neonatal purpura fulminans due to homozygous protein C or protein S deficiency. Semin Thromb Hemost 16:299, 1990
25. Reitsma PH, Bernardi F, Doig RG, Gandrille S, Greengard JS, Ireland M, Lind B, Long GL, Poort SR, Saito H, Sala N, Witt I, Cooper DN: Protein C deficiency: A database of mutations, 1995 update. Thromb Haemost 73:876, 1995
26. Gomez E, Ledford MR, Pegelow CH, Reitsma PH, Bertina RM: Homozygous protein S deficiency due to a one base pair deletion that leads to a stop codon in exon III of the protein S gene. Thromb Haemost 71:723, 1994
27. Melissari E, Nicolaides KH, Scully MF, Kakkar VV: Protein S and C4b-binding protein in fetal and neonatal blood. Br J Haematol 70:199, 1988
28. Formstone CJ, Wacey AI, Berg L-P, Rahman S, Bevan D, Rowley M, Voke J, Bernardi F, Legnani C, Simioni P, Girolami A, Tuddenham EGD, Kakkar VV, Cooper DN: Detection and characterization of seven novel protein S (PROS) gene lesions: Evaluation of RT-PCR as a mutation screening strategy. Blood 86:2623, 1995
29. Hallam PJ, Wacey AI, Manucci PM, Legani C, Kuhnau W, Krawczak M, Kakkar VV, Cooper DN: A novel missense mutation (Thr 176 → Ile) at the putative hinge of the neo N-terminus of activated protein C. Hum Genet 95:447, 1995
30. Woodward SR, Weyward NJ, Bunnell M: DNA sequence from Cretaceous period bone fragments. Science 266:1229, 1994
31. Ginsberg D, Konkle BA, Gill JC, Montgomery RR, Bockenstedt PL, Johnson TA, Yang AY: Molecular basis of human von Willebrand disease: Analysis of platelet von Willebrand factor mRNA. Proc Natl Acad Sci USA 86:3723, 1989
32. Chomczynski P, Sacchi N: Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156, 1987
33. Bertina RM, Koeleman BPC, Koster T, Rosendal FR, Dirren RJ, de Ronde H, van der Velden PA, Reitsma PH: Mutation in the blood coagulation factor V associated with resistance to activated protein C. Nature 369:64, 1994
34. Hallam PJ, Millar DS, Krawczak DS, Krawczak M, Kakkar W, Cooper DN: Population differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiency. J Med Genet 32:543, 1995
35. Diepstraten CM, Ploos van Amstel HK, Reitsma PH, Bertina RM: A CCA/CCG neutral dimorphism in the codon for Pro626 of the human protein S gene PS alpha (PROS1). Nucleic Acids Res 19:5091, 1991
36. Svensson PJ, Dahlbäck B: Resistance to activated protein C is a basis for venous thrombosis. New Engl J Med 330:517, 1994
37. Jobin F, Vu L, Lessard M: Two cases of inherited triple deficiency in a large kindred with thrombotic diathesis and deficiencies of antithrombin III, heparin cofactor II, protein C and protein S. Thromb Haemost 66:295, 1991
38. Koeleman BPC, Reitsma PH, Allaart CF, Bertina RM: Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. Blood 84 1031, 1994
39. Van Boven HH, Reitsma PH, Rosendaal FR, Briët E, Vandenbroucke JP, Bayston TA, Chowdhury V, Bauer K, Scharrer T, Lane DA: Interaction of factor V Leiden with inherited antithrombin deficiency. Blood Coagul Fibrinolysis 6:153, 1995
40. He X, Dahlbäck B: Molecular cloning, expression and functional characterization of rabbit anticoagulant vitamin K-dependent protein S. Eur J Biochem 217:857, 1993
41. Dahlbäck B, Lundwall A, Stenflo J: Primary structure of bovine vitamin K-dependent protein S. Proc Natl Acad Sci USA 83:4199, 1986
42. Gershagen S, Fernlund P, Lundwall A: A cDNA coding for human sex hormone-binding globulin, Homology to vitamin K-dependent protein S. FEBS Lett 220:129, 1987
43. Allaart CF, Poort SR, Rosendaal FR, Reitsma PH, Bertina RM, Briet E: Increased risk of venous thrombosis in carriers of hereditary protein C deficiency defect. Lancet 341:134, 1993
44. Pabinger I, Allaart CF, Hermans J, Briët E, Bertina RM, Conard J, Hach-Wunderle V, Kemkes-Matthes B, Mannuacci PM, Sala N, Scharrer I, Shulman S, Tripodi A: Hereditary protein C-deficiency: Laboratory values in transmitters and guidelines for the diagnostic procedure. Thromb Haemost 68:470, 1992
45. Montgomery RR, Scott JP: Hemostasis: Diseases of the fluid phase, in Nathan DG, Oski FA (eds): Hematology of Infancy and Childhood (ed 4). Philadelphia, PA, Saunders, 1992, p 1605