A mutation of the active protein S gene leading to an EGF1-lacking protein in a family with qualitative (type II) deficiency

Blood

Volumn 91, Issue 12, 1998, Pages 4608-4615

  Leroy Matheron, C ^b   Gouault Heilmann, M ^b   Aiach, M ^b   Gandrille, S ^a  

^a INSERM   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

EPIDERMAL GROWTH FACTOR; PROTEIN S;

ADULT; AGED; ARTICLE; CASE REPORT; DEEP VEIN THROMBOSIS; FAMILIAL DISEASE; GENE MUTATION; HUMAN; MALE; MOLECULAR WEIGHT; PRIORITY JOURNAL; PROTEIN S DEFICIENCY;

EID: 0031810569     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v91.12.4608.412k29_4608_4615     Document Type: Article

References (42)

1. Esmon CT: Protein S and protein C. Biochemistry, physiology, and clinical manifestation of deficiencies. Trends Cardiovasc Med 2:214, 1992
2. Heeb MJ, Mesters 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
3. 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
4. Van Vijnen M, Stam JG, van't Veer C, Meijers JCM, Reitsma PH, Bertina RM, Bouma BN: The interaction of protein S with the phospholipid surface is essential for the activated protein C-independent activity of protein S. Thromb Haemost 76:397, 1996
5. Zöller B, Garcia de Frutos P, Dahlbäck B: Evaluation of the relation between protein S and C4b-binding protein isoforms in hereditary protein S deficiency demonstrating type I and type III deficiencies to be phenotypic variants of the same genetic disease. Blood 85:3524, 1995
6. 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
7. Simmonds RE, Zöller B, Ireland H, Thompson E, de Frutos PG, Dahlbäck B, Lane DA: Genetic and phenotypic analysis of a large (122-member) protein S-deficient kindred provides an explanation for the familial coexistence of type I and type III plasma phenotypes. Blood 89:4364, 1997
8. Watkins P, Eddy R, Fukushima Y, Byers M, Cohen E, Dackowski W, Wydro R, Shows T: The gene for protein S maps near the centomer of human chromosome 3. Blood 71:238, 1988
9. Edenbrandt CM, Lundwall A, Wydro R. Stenflo J: Molecular analysis of the gene for vitamin K dependent protein S and its pseudogene. Cloning and partial gene organization. Biochemistry 29:7861, 1990
10. Ploos van Amstel HK, Reitsma PH, van der Logt PE, Bertina RM: Intron-exon organization of the active human protein S gene PSα and its pseudogene PSβ: Duplication and silencing during primate evolution. Biochemistry 29:7853, 1990
11. Schmidel DK, Tatro AV, Tomczak JA, Long GL: Organization of the human protein S genes. Biochemistry 29:7845, 1990
12. Gandrille S, Borgel D, Ireland H, Lane DA, Simmonds R, Reitsma PH, Mannhalter C, Pabinger I, Saito H, Suzuki K, Formstone C, Cooper DN, Espinosa Y, Sala N, Bernardi F, Aiach M: Protein S deficiency: Adatabase of mutations. Thromb Haemost 77:1201, 1997
13. Duchemin J, Gandrille S, Borgel D, Feurgard P, Alhenc-Gelas M, Matheron C, Dreyfus M, Dupuy E, Juhan-Vague I, Aiach M: The Ser 460 to Pro substitution of the protein S α (PROS1) gene is a frequent mutation associated with free protein S (type IIa) deficiency. Blood 86:3436, 1995
14. Formstone CJ, Wacey AI, Berg LP, Rahman S, Bevan D, Rowley M, Yoke 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 reverse transcript-polymerase chain reaction as a mutation screening strategy. Blood 86:2632, 1995
15. Borgel D, Duchemin J, Alhenc-Gelas M, Matheron C, Aiach M, Gandrille S: Molecular basis for protein S hereditary deficiency: Genetic defects observed in 118 patients with type I and type IIa deficiencies. J Lab Clin Med 128:218, 1996
16. Yamazaki T, Katsumi A, Okamoto Y, Takafuta T, Tsuzuki S, Kagami K, Sugiura I, Kojima T, Fujimura K, Saito H: Two distinct novel splice site mutations in a compound heterozygous patient with protein S deficiency. Thromb Haemost 77:14, 1997
17. Bertina RM, Ploos van Amstel HK, van Wijngaarden A, Coenen J, Leemhuis MP, Deutz-Terlouw PP, van der Linden IK, Reitsma PH: Heerlen polymorphism of protein S, an immunologie polymorphism due to dimorphism of residue 460. Blood 76:538, 1990
18. Dahlbäck B: Protein S and C4b-binding protein: Components involved in the regulation of the protein C anticoagulant system. Thromb Haemost 66:49, 1991
19. Gandrille S, Borgel D, Eschwege-Gufflet V, Aillaud MF, Dreyfus M, Matheron C, Gaussem P, Abgrall JF, Jude B, Sié P, Toulon P, Aiach M: Identification of 15 different candidate causal point mutations and 3 polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of the protein S active gene. Blood 85:130, 1995
20. Simmonds RE, Ireland H, Kunz G, Lane DA: Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis. Blood 88:4195, 1996
21. Hayashi T, Nishioka J, Shigekiyo T, Saito S, Suzuki K: Protein S Tokushima: Abnormal molecule with a substitution of Glu for Lys-155 in the second epidermal growth factor-like domains of protein S. Blood 83:683, 1994
22. Amiral J, Grosley B, Boyer-Neumann C, Marfaing-Koka A, Peynaud-Debayle E, Wolf M, Meyer D: New direct assay of free protein S antigen using two distinct monoclonal antibodies specific for the free form. Blood Coagul Fibrinol 5:179, 1994
23. Wolf M, Boyer-Neumann C, Leroy-Matheron C, Martinoli JL, Contant G, Amiral J, Meyer D, Larrieu MJ: Functional assay of protein S in 70 patients with congenital and acquired disorders. Blood Coagul Fibrinol 2:705, 1991
24. Bell G, Karam J, Rutter W: Polymorphic DNA region adjacent to the 5′ end of the human insuline gene. Proc Natl Acad Sci USA 78:5759, 1981
25. Sanger F, Nicklen S, Coulson AR: DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74:5463, 1977
26. Laemmli UK: Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227:680, 1970
27. Faioni EM, Franchi F, Asti D, Sacchi E, Bernardi F, Mannucci PM: Resistance to activated protein C in nine thrombophilic families: Interference in a protein S functional assay. Thromb Haemost 70:1067, 1993
28. Dahlback B, Hildebrand B, Malm J: Characterization of functionally important domains in human vitamin K-dependent protein S using monoclonal antibodies. J Biol Chem 265:8127, 1990
29. Krawczak M, Reiss J, Cooper DN: The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences. Hum Genet 90:41, 1992
30. Ohshima Y, Gotoh Y: Signals for the selection of a splice site in pre-mRNA. Computer analysis of splice junction sequences and like sequences. J Mol Biol 195:247, 1987
31. Aebi M, Hornig H, Padgett RA, Reiser J, Weissmann C: Sequence requirements for splicing of higher eukaryotic nuclear pre-mRNA. Cell 47:555, 1986
32. Talerico M, Berget SM: Effect of 5′ splice site mutations on splicing of the preceding intron. Mol Cell Biol 10:6299, 1990
33. Lear AL, Eperon LP, Wheatley IM, Eperon IC: Hierarchy for 5′ splice site preference determined in vivo. JMol Biol 211:103, 1990
34. Okamoto Y, Yamazaki T, Katsumi A, Kojima T, Takamatsu J, Nishida M, Saito H: A novel nonsense mutation associated with an exon skipping in a patient with hereditary protein S deficiency type I. Thromb Haemost 75:877, 1996
35. Li M, Long GL: Identification of two novel point mutations in the human protein S gene associated with familial protein S deficiency and thrombosis. Arteriosclerosis Thromb Vase Biol 16:1407, 1996
36. Naylor JA, Green PM, Montandon AJ, Rizza CR, Giannelli F: Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene. Lancet 337:635, 1991
37. Haire RN, Ohta Y, Strong SJ, Litman RT, Liu Y, Prchal JT, Cooper MD, Litman GW: Unusual patterns of exon skipping in Bruton tyrosine kinase are associated with mutations involving the intron 17 3′ splice site. Am J Hum Genet 60:798, 1997
38. Akli S, Chelly J, Mezard C, Gandy S, Kahn A, Poenaru L: A "G" to "A" mutation at position -1 of a 5′ splice site in a late infantile form of Tay-Sachs disease. J Biol Chem 265:7324, 1990
39. Nicholls AC, Oliver JE, McCarron S, Harrison JB, Greenspan DS, Pope FM: An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome. J Med Genet 33:940, 1996
40. Dahlbäck B: Protein S and C4b-binding protein: Components involved in the regulation of the protein C anticoagulant system. Thromb Haemost 66:49, 1991
41. Stenflo J: Structure-function relationships of epidermal growth factor modules in vitamin K-dependent clotting factors. Blood 78:1637, 1991
42. Greengard JS, Fernandez JA, Radtke KP, Griffin JH: Identification of candidate residues for interaction of protein S with C4b binding protein and activated protein C. Biochem J 305:397, 1995