The clinical and laboratory significance of cases of congenital FX deficiency due to defects in the Gla-domain

Hematology

Volumn 14, Issue 3, 2009, Pages 177-181

  Girolami, Antonio ^a   Allemand, Emanuele ^a   Scandellari, Raffaella ^a   Lombardi, Anna Maria ^a   Girolami, Bruno ^a  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

Author keywords

Activity and antigen levels; Bleeding; Factor X deficiency; Gla domain

Indexed keywords

BLOOD CLOTTING FACTOR 10; GLA DOMAIN OF BLOOD CLOTTING FACTOR 10; UNCLASSIFIED DRUG; ANTIGEN; BLOOD CLOTTING FACTOR 10 ANTIGEN;

ARTICLE; BLEEDING; BLOOD CLOTTING FACTOR 10 DEFICIENCY; BLOOD CLOTTING FACTOR 7 DEFICIENCY; CONTROLLED STUDY; DISEASE SEVERITY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; PRIORITY JOURNAL; PROTEIN DOMAIN; AMINO ACID SEQUENCE; BLOOD; CHEMISTRY; FEMALE; GENETICS; HETEROZYGOTE; HOMOZYGOTE; IMMUNOLOGY; MALE; MOLECULAR GENETICS; PEDIGREE; POINT MUTATION; PROTEIN TERTIARY STRUCTURE;

AMINO ACID SEQUENCE; ANTIGENS; FACTOR X; FACTOR X DEFICIENCY; FEMALE; HEMORRHAGE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; PROTEIN STRUCTURE, TERTIARY;

EID: 67949100585     PISSN: 10245332     EISSN: 16078454     Source Type: Journal    
DOI: 10.1179/102453309X426173     Document Type: Article

References (27)

1. Telfer TP, Denson KW, Wright DR. A new congenital defect. Br. J Haematol 1956; 2: 308-316.
2. 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: 485-496.
3. Bachmann F, Duckert F, Fluckiger P, Hitzig W, Koller F. Uber einen meuartigen kongenitalen gerinnungsdefect (mangel an Stuart factor). Thromb Diath Haemorrh 1958; 1: 87-92.
4. Danson KV. Abnormal form of factor X. Lancet 1969; 2: 256.
5. Fair DS, Edgington TS. Heterogeneity of hereditary and acquired factor X deficiencies by combined immunochemical and functional analyses. Br J Haematol 1985; 59: 235-248.
6. Girolami A. Tentative and updated classification of factor X variants. Acta Haematol 1986; 75: 58-59.
7. Cooper DN, Millar DS, Wacey A, Pemberton S, Tuddenham EG. Inherited factor X deficiency: molecular genetics and pathophysiology. Thromb Haemost 1997; 78: 161-172 (Pubitemid 27289235)
8. Uprichard J, Perry DJ. Factor X deficiency. Blood Rev 2002; 16: 97-110.
9. Girolami A, Scarparo P, Scandellari R, Allemand E. Congenital factor X deficiencies with a defect only or predominant in the extrinsic or in the intrinsic system: a critical evaluation. Am J Hematol 2008; 83: 668-671.
10. Forberg E, Huhmann I, Jimenez-Boj E, Watzke HH. The impact of Glu102Lys on the factor X function in a patient with a doubly homozygous factor X deficiency (Gla14Lys and Glu102Lys). Thromb Haemost 2000; 83: 234-238.
11. Ingerslev J, Herlin T, Sørensen B, Clausen N, Chu KC, High KA. Severe factor X deficiency in a pair of siblings: clinical presentation, phenotypic and genotypic features, prenatal diagnosis and treatment. Haemophilia 2007; 13: 334-336.
12. Kim DJ, Thompson AR, James HL. Factor XKetchikan: a variant molecule in which Gly replaces a Gla residue at position 14 in the light chain. Hum Genet 1995; 95: 212-214.
13. Jayandharan G, Viswabandya A, Baidya S et al. Six novel mutations including triple heterozygosity for Phe31Ser, 514delT and 516TRG factor X gene mutations are responsible for congenital factor X deficiency in patients of Nepali and Indian origin. J Thromb Haemost 2005; 3: 1482-1487.
14. Menegatti M, Karimi M, Garagiola I, Mannucci P, Peyvandi F. A rare inherited coagulation disorder: combined homozygous factor VII and factor X deficiency. Am J Hematol 2004; 77: 90-91.
15. Nöbauer-Huhmann IM, Hö ller W, Krinninger B et al. Factor X Frankfurt I: molecular and functional characterization of a hereditary factor X deficiency (Glaz25 to Lys). Blood Coagul Fibrinolysis 1998; 9: 143-152.
16. 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: 63-65.
17. Rudolph AE, Mullane MP, Porche-Sorbet R, Tsuda S, Miletich JP. Factor XSt. Louis II. Identification of a glycine substitution at residue 7 and characterization of the recombinant protein. J Biol Chem 1996; 271: 28601-28606.
18. Pinotti M, Marchetti G, Baroni M, Cinotti F, Morfini M, Bernardi F. Reduced activation of the Gla19Ala FX variant via the extrinsic coagulation pathway results in symptomatic CRMred FX deficiency. Thromb Haemost 2002; 88: 236-241.
19. Watzke HH, Lechner K, Roberts HR et al. Molecular defect (Glaz14----Lys) and its functional consequences in a hereditary factor X deficiency (factor X 'Vorarlberg'). J Biol Chem 1990; 265: 11982-11989.
20. Zama T, Murata M, Watanabe R et al. A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo). Br J Haematol 1999; 106: 809-811.
21. Wallmark A, Larson P, Ljung R, Monroe D. High K: molecular defect (Gla26Asp) and its functional consequences in a hereditary factor X deficiency (factor X Malmo). Blood 1991; 78: 60.
22. 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: 1161-1163.
23. Au WY, Lam CC, Cheung WC, Kwong YL. Two novel factor X gene mutations in a Chinese family with factor X deficiency. Ann Hematol 2004; 83: 304-306.
24. Akhavan S, Chafa O, Obame FN et al. Recurrence of a Phe31Ser mutation in the Gla domain of blood coagulation factor X, in unrelated Algerian families: a founder effect? Eur J Haematol 2007; 78: 405-409.
25. Greenberg DL, Davie EW. Blood coagulation factors: this complementary DNA, gene and expression. In: Colman RW, Monder V, Clowes A, George A, Goldberg S. (eds) Hemostasis and Thrombosis, 5th edn. Philadelphia, PA: Lippicott, Williams e Wilkins, 2006; 21.
26. Marchetti G, Castaman G, Pinotti M et al. Molecular bases of CRMz factor X deficiency: a frequent mutation (Ser334Pro) in the catalytic domain and a substitution (Glu102Lys) in the second EGF-like domain. Br J Haematol 1995; 90: 910-915.
27. Girolami A, Scapin M, Scarparo P, Vettore S. Different genotypes are responsible for the normal Russel viper venom assays seen in some cases of FX deficiency. Am J Hematol 2008; 83: 884-885.