Phenotypic and genotypic characterization of Factor VII deficiency patients from Western India

Clinica Chimica Acta

Volumn 409, Issue 1-2, 2009, Pages 106-111

  Mota, Leenam ^a   Shetty, Shrimati ^a   Idicula Thomas, Susan ^b   Ghosh, Kanjaksha ^a  

^a NATIONAL INSTITUTE OF IMMUNOHAEMATOLOGY   (India)

^b NATIONAL INSTITUTE FOR RESEARCH IN REPRODUCTIVE HEALTH   (India)

Author keywords

Factor VII deficiency; India; Mutations

Indexed keywords

ALANINE; ARGININE; ASPARTIC ACID; BLOOD CLOTTING FACTOR 7; CYSTEINE; DNA; EPIDERMAL GROWTH FACTOR; GLUTAMIC ACID; GLUTAMINE; GLYCINE; HISTIDINE; ISOLEUCINE; LEUCINE; METHIONINE; PHENYLALANINE; PROLINE; PROTHROMBIN; SERINE PROTEINASE; THREONINE; THROMBIN; THROMBOPLASTIN; TRYPTOPHAN;

ADOLESCENT; ADULT; ARTICLE; BLOOD CLOTTING FACTOR 7 DEFICIENCY; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GEL ELECTROPHORESIS; GENE MUTATION; GENETIC CONSERVATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HUMAN; INDIA; INFANT; MALE; MISSENSE MUTATION; MOLECULAR INTERACTION; PARTIAL THROMBOPLASTIN TIME; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN STRUCTURE; PROTHROMBIN TIME; SCHOOL CHILD; SEQUENCE ALIGNMENT; THROMBIN TIME;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BLOOD COAGULATION; CHILD; CHILD, PRESCHOOL; CONSERVED SEQUENCE; FACTOR VII; FACTOR VII DEFICIENCY; FEMALE; HAPLOTYPES; HUMANS; INDIA; INFANT; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC; PROTEIN CONFORMATION; PROTEIN STABILITY; YOUNG ADULT;

EID: 70349979511     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2009.09.007     Document Type: Article

References (28)

1. Osterud B., and Rapaport S. Activation of factor IX by the reaction product of tissue factor and factor VII: additional pathway for initiating blood coagulation. Proc Natl Acad Sci U S A 74 (1977) 5260-5264
2. Peyvandi F., Duga S., Akhavan S., et al. Rare coagulation deficiencies. Hemophilia 8 (2002) 308-321
3. Triplett D.A., Brandt J.T., Batard M.A., Dixon J.L., and Fair D.S. Hereditary factor VII deficiency: heterogeneity defined by combined functional and immunochemical analysis. Blood 66 (1985) 1284-1287
4. Mariani G., Dolce A., Marchetti G., and Bernardi F. Clinical picture and management of congenital factor VII deficiency. Hemophilia 10 (2004) 180-183
5. de Grouchy J., Dautzenberg M.D., Turleau C., et al. Regional mapping of clotting factors VII and X to 13q34: expression of factor VII through chromosome 8. Hum Genet 66 (1984) 230-233
6. O'hara P.J., Grant F.J., Halderman A., et al. Neocleotide sequence of the gene coding for human Factor VII a vitamin K dependant protein participating in blood coagulation. Proc Natl Acad Sci U S A 84 (1987) 5158-5162
7. FVII mutation database: europium.csc.mrc.ac.uk.
8. Jayandharan G.R., Viswabandya A., Nair S.C., et al. Molecular basis of hereditary factor VII deficiency in India: five novel mutations including a double missense mutation (Ala191Glu; Trp364Cys) in 11 unrelated patients. Haematologica 92 (2007) 1002-1003
9. Ahmed R.P., Biswas A., Kannan M., et al. First report of a FVII-deficient Indian patient carrying double heterozygous mutations in the FVII gene. Thromb Res 115 (2005) 535-536
10. Dacie J.V., and Lewis S.M. Practical hematology. 6th edn (1984), Churchill Livingstone, Edinburgh 230-232
11. Altschul S.F., Madden T.L., Schäffer A.A., et al. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res 25 (1997) 3389-3402
12. Thompson J.D., Higgins D.G., and Gibson T.J. CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position specific gap penalties and weight matrix choice. Nucleic Acids Res 22 (1994) 4673-4680
13. Crooks G.E., Hon G., Chandonia J.M., and Brenner S.E. WebLogo: a sequence logo generator. Genome Res 14 (2004) 1188-1190
14. Banner D.W., D'Arcy A., Chène C., et al. The crystal structure of the complex of blood coagulation factor VIIa with soluble tissue factor. Nature 380 (1996) 41-46
15. Guex N., and Peitsch M.C. SWISS-MODEL and the Swiss-Pdb Viewer: an environment for comparative protein modeling. Electrophoresis 18 (1997) 2714-2723
16. Tina K.G., Bhadra R., and Srinivasan N. PIC: Protein Interactions Calculator. Nucleic Acids Res 35 (2007) W473-W476
17. Fraczkiewicz R., and Braun W. Exact and efficient analytical calculation of the accessible surface areas and their gradients for macromolecules. J Comp Chem 19 (1998) 319-333
18. Rapaport S.I., and Rao L.V. The tissue factor pathway: how it has become a "prima ballerina". Thromb Hemost 74 (1995) 7-17
19. Peyvandi F., Mannucci P.M., Asti D., et al. Clinical manifestations in 28 Italian and Iranian patients with severe factor VII deficiency. Hemophilia 3 (1997) 242-246
20. Fromovich-Amit Y., Zivelin A., Rosenberg N., et al. Characterization of mutations causing factor VII deficiency in 61 unrelated Israeli patients. J Thromb Hemost 2 (2004) 1774-1781
21. Chaing S., Clarke B., Sridhara S., et al. Severe factor VII deficiency caused by mutations abolishing the cleavage site for activation and altering binding to tissue factor. Blood 83 (1994) 3524-3535
22. Giansily-Blaizot M., Verdier R., Biron-Adréani C., et al. Analysis of biological phenotypes from 42 patients with inherited factor VII deficiency: can biological tests predict the bleeding risk?. Haematologica 89 (2004) 704-709
23. Gomez K., Laffan M.A., Kemball-Cook G., et al. Two novel mutations in severe factor VII deficiency. Br J Haematol 126 (2004) 105-110
24. Sauer R.T., Milla M.E., Waldburger C.D., et al. Sequence determinants of folding and stability for the P22 Arc repressor dimer. FASEB J 10 (1996) 42-48
25. Shetty S., Vora S., Kulkarni B., et al. Contribution of natural anticoagulant and fibrinolytic factors in modulating the clinical severity of hemophilia patients. Br J Haematol 138 (2007) 541-544
26. Arbini A.A., Bodkin D., Lopaciuk S., and Bauer K.A. Molecular analysis of Polish patients with factor VII deficiency. Blood 84 (1994) 2214-2220
27. Mariani G., Herrmann F.H., Dolce A., et al. Clinical phenotypes and factor VII genotype in congenital factor VII deficiency. Thromb Hemost 93 (2005) 481-487
28. G.R. Jayandharan, S.C. Nair, P.M. Poonnoose, et al. Polymorphism in factor VII gene modifies phenotype of severe hemophilia. Hemophilia (in press).