Unexplained Discrepancies in the Activity—Antigen Ratio in Congenital FX Deficiencies With Defects in the Catalytic Domain

Clinical and Applied Thrombosis/Hemostasis

Volumn 15, Issue 6, 2009, Pages 621-627

  Girolami, A ^a   Scarparo, P ^a   Vettore, S ^a   Candeo, N ^a   Scandellari, R ^a   Lombardi, A M ^a  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

Author keywords

catalytic domain; classification; factor X activity and antigen; factor X deficiency

Indexed keywords

ANTIGEN; BLOOD CLOTTING FACTOR 10;

BLOOD CLOTTING FACTOR 10 DEFICIENCY; CLASSIFICATION; ENZYME ACTIVE SITE; FAMILY HEALTH; GENETICS; HUMAN; IMMUNOLOGY; METHODOLOGY; MOLECULAR EPIDEMIOLOGY; MUTATION; REVIEW;

ANTIGENS; CATALYTIC DOMAIN; FACTOR X; FACTOR X DEFICIENCY; FAMILY HEALTH; HUMANS; MOLECULAR EPIDEMIOLOGY; MUTATION;

EID: 75549087612     PISSN: 10760296     EISSN: None     Source Type: Journal    
DOI: 10.1177/1076029609343447     Document Type: Article

References (37)

1. Uprichard J., Perry DJ Factor X deficiency. Blood Rev. 2002; 16(2):91-110.
2. Cooper DN, Millar DS, Wacey A., Pemberton S., Tuddenham EG Inherited factor X deficiency: molecular genetics and pathophysiology. Thromb Haemost. 1997; 78(1):161-172.
3. Millar DS, Elliston L., Deex P., et al. Molecular analysis of the genotype-phenotype relationship in factor X deficiency. Hum Genet. 2000; 106(2):249-257.
4. Girolami A., Scarparo P., Scandellari R., Allemand E. Congenital factor X deficiencies with a defect only or predominantly in the extrinsic or in the intrinsic system: a critical evaluation. Am J Hematol. 2008; 83(8):668-671.
5. Girolami A., Scapin M., Scarparo P., Vettore S. Different genotypes are responsible for the normal Russell viper venom assays seen in some cases of congenital factor X deficiency. Am J Hematol. 2008; 83(11):884-885.
6. Bernardi F., Castaman G., Redaelli R., et al. Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala→Val) and X (334Ser→Pro). Hum Mol Genet. 1994; 3(7):1175-1177.
7. Bereczky Z., Szabo T., Haramura G., Komaromi I., Muszbek L. Two novel missense mutations (Thr233Met and Trp308Leu) in the factor X gene and their functional consequences in a patient with severe factor X deficiency. J. Thromb. Haem. 2007; 5(suppl.2):O-M-024. (Abstract).
8. Bezeaud A., Miyata T., Helley D., et al. Functional consequences of the Ser 334 Pro mutation in a human factor X variant (factor X Marseille). Eur J. Biochem. 1995; 234(10):140-147.
9. Deam S., Srinivasan N., Westby J., Horn EH, Dolan G. FX Nottingham and FX Taunton. Two novel mutations in factor X resulting in loss of functional activity and an interpretation using molecular modelling. Thromb Haemost. 2001; 85(2):265-269.
10. Deam S., Uprichard J., Eaton JT, Perkins SJ, Dolan G. Factor X. Leichester: lle 411Phe associated with a low antigen level and a disproportionately low functional activity of factor X. J Thromb Haemost. 2003; 1(3): 603-605.
11. Deam S., Uprichard J., Eaton JT, et al. Two new factor X mutations (Pro382Leu and Phe356Cys) associated with low activity and low antigen levels. Thromb Haemost. 2004; 92(5):1161-1163.
12. Girolami A., Vianello F., Cabrio L., Lombardi AM A new mutation (Arg251 Trp) in the Ca2+ binding site of factor X protease domain appears to be responsible for the defect in the extrinsic pathway activation of factor X Padua. Clin. Appl. Thromb. Haemost. 2004; 10(1):5-8.
13. Girolami A., Molaro G., Lazzarin M., Scarpa R., Brunetti A. A “new” hemorrhagic condition due to the presence of an abnormal factor X (factor X Friuli): A study of a large kindred. Br J Haematol. 1970;19(8):179-192.
14. Girolami A., Vicarioto M., Ruzza G., Cappellato G., Vergolani A. Factor X. Padua: A “new” congenital factor X abnormality with a defect only in the extrinsic system. Acta Haematol. 1985; 73(1):31-36.
15. De Stefano V., Leone G., Ferrelli R., Hassan HJ, Macioce G., Bizzi B. Factor X. Roma: a congenital factor X variant defective at different degrees in the intrinsic and the extrinsic activation. Br J Haematol. 1988; 69(3):387-391.
16. Herrmann FH, Navarette M., Salazar-Sanchez L., Carillo JM, Auerswald G., Wulff K. Homozygous factor X gene mutations Gly380Arg and Tyr163delAT are associated with perinatal intracranial hemorrhage. J Pediatr. 2005; 146(1):128-130.
17. Herrmann FH, Auerswald G., Ruiz-Saez A., et al. For The Greifswald Factor X Deficiency Study Group. Factor X deficiency: clinical manifestation of 102 subjects from Europe and Latin America with mutations in the factor 10 gene. Haemophilia. 2006; 12(5):479-489.
18. Hougie C., Barrow EM, Graham JB Stuart clotting defect. I. Segregation of an hereditary hemorrhagic state from the heterogeneous group heretofore called stable factor (SPCA, proconvertin, factor VII) deficiency. J Clin Invest. 1957;36(3):485-496.
19. Isshiki I., Favier R., Moriki T., et al. Genetic analysis of hereditary factor X deficiency in a French patient of Sri Lankan ancestry: In vitro expression study identified Gly366Ser substitution as the molecular basis of the dysfunctional factor X. Blood Coagul Fibrinolysis. 2005; 16(1):9-16.
20. James HL, Girolami A., Fair DS Molecular defect in coagulation factor XFriuli results from a substitution of serine for proline at position 343. Blood. 1991; 77(2): 317-323.
21. Jayandharan G., Viswabandya A., Baidya S., et al. Six novel mutations including triple heterozygosity for Phe31Ser, 514delT and 516T–>G factor X gene mutations are responsible for congenital factor X deficiency in patients of Nepali and Indian origin. J Thromb Haemost. 2005; 3(7):1482-1487.
22. Messier TL, Wong CY, Bovill EG, Long GL, Church WR Factor X. Stockton: a mild bleeding diathesis associated with an active site mutation in factor X. Blood Coagul Fibrinolysis. 1996;7(1):5-14.
23. Miyata T., Kojima T., Suzuki K., et al. Factor X Nagoya 1 and Nagoya 2: a CRM- factor X deficiency and a dysfunctional CRM+ factor X deficiency characterized by substitution of Arg306 by Cys and of Gly366 by Ser, respectively. Thromb Haemost. 1998; 79(3):486-490.
24. Moroshita E., Vade A., Asakura H. Molecular genetic analysis of factor X deficiency (FX Ohmura): identification of a novel gene alteration in a Japanese family. J Thromb Haemost. 2001; (suppl):CD3372. (Abstract).
25. Odom MW, Leone G., De Stefano V., et al. Five novel point mutations: two causing haemophilia B and three causing factor X deficiency. Mol Cell Probes. 1994; 8(1):63-65.
26. Peyvandi F., Menegatti M., Santagostino E., et al. Gene mutations and three-dimensional structural analysis in 13 families with severe factor X deficiency. Br J Haematol. 2002; 117(3):685-692.
27. Pinotti M., Camire RM, Baroni M., Rajab A., Marchetti G., Bernardi F. Impaired prothrombinase activity of Factor X Gly381Asp results in severe familial CRM+FX deficiency. Thromb Haemost. 2003; 89(2):243-248.
28. Pinotti M., Monti M., Baroni M., Marchetti G., Bernardi F. Molecular characterization of factor X deficiency associated with borderline plasma factor X level. Haematologica. 2004;89(4):501-502.
29. Shen MC A novel mutation with Ins C (882-883) of the Factor X gene in a Taiwanese Chinese factor X-deficient family. Thromb Haemost. 2004; 91(1):208-209.
30. Simioni P., Vianello F., Kalafatis M., et al. A dysfunctional factor X (factor X San Giovanni Rotondo) present at homozygous and double heterozygous level: Identification of a novel microdeletion (delC556) and missense mutation (Lys(408)–>Asn) in the factor X gene. A study of an Italian family. Thromb Res. 2001; 101(4):219-230.
31. Telfer TP, Denson KW, Wright DR A new coagulation defect. Br J Haematol. 1956;2(3):308-316.
32. Todd T., Perry DJ, Hayman E., Lawrence K., Gattens M., Baglin T. Severe factor X deficiency due to a homozygous mutation (Cys364Arg) that disrupts a disulphide bond in the catalytic domain. Haemophilia. 2006; 12(6):621-624.
33. Vianello F., Lombardi AM, Boldrin C., Luni S., Girolami A. A new factor X defect (factor X Padua 3): A compound heterozygous between true deficiency (Gly(380)–>Arg) and an abnormality (Ser(334)–>Pro). Thromb Res. 2001; 104(4):257-264.
34. Vianello F., Lombardi AM, Bello FD, Palù G., Zanon E., Girolami A. A novel type I factor X variant (factor X Cys350Phe) due to loss of a disulfide bond in the catalytic domain. Blood Coagul Fibrinolysis. 2003; 14(4): 401-405.
35. Greenberg BL, Davie EW Blood coagulation factors: their complementary DNAs, genes and expression. In: Geman RW, Morden V, Clowes A, Goldhaber S, eds. Hemostasis and Thrombosis. 5th ed. Philadelphia, PA: Lippincott, Williams, Wilkins; 2006: 21.
36. Girolami A., Scandellari R., Scapin M., Vettore S. Congenital Bleeding disorders of the vitamin K-dependent clotting factors. Vitam Horm. 2008; 78(1):281-374.
37. Girolami A., Allemand E., Scandellari R., Lombardi AM, Girolami B. The clinical and laboratory significance of cases of congenital FX deficiency due to defects in the Gla-domain. Hematology. 2009; 14(3):177-181.