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

Journal of Thrombosis and Haemostasis

Volumn 3, Issue 7, 2005, Pages 1482-1487

  Jayandharan, G ^a   Viswabandya, A ^a   Baidya, S ^a   Nair, S C ^a   Shaji, R V ^a   George, B ^a   Chandy, M ^a   Srivastava, Alok ^a  

^a CHRISTIAN MEDICAL COLLEGE   (India)

Author keywords

Conformation sensitive gel electrophoresis; Factor X; India

Indexed keywords

BLOOD CLOTTING FACTOR 10; ARGININE; BLOOD CLOTTING FACTOR 5A; EPITOPE; LYSINE; PHENYLALANINE; PRIMER DNA; SERINE;

ADOLESCENT; ADULT; ARTICLE; BLOOD CLOTTING; BLOOD CLOTTING FACTOR 10 DEFICIENCY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTRICITY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HETEROZYGOSITY; HUMAN; INDIAN; INFANT; MALE; MISSENSE MUTATION; NEPAL; PHENOTYPE; PRIORITY JOURNAL; BIOLOGICAL MODEL; CHEMICAL STRUCTURE; CHEMISTRY; CPG ISLAND; EXON; GENETICS; HETEROZYGOTE; INDIA; MUTATION; NUCLEOTIDE SEQUENCE; STOP CODON;

ARGININE; CODON, NONSENSE; CPG ISLANDS; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EPITOPES; EXONS; FACTOR VA; FACTOR X; FACTOR X DEFICIENCY; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; INDIA; LYSINE; MODELS, GENETIC; MODELS, MOLECULAR; MUTATION; MUTATION, MISSENSE; NEPAL; PHENYLALANINE; SERINE;

EID: 25144477047     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2005.01339.x     Document Type: Article

References (30)

1. Perry DJ. Factor X and its deficiency states. Haemophilia 1997; 3: 159-72.
2. Pfeiffer RA, Ott R, Gilgenkrantz S, Alexandre P. Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13 (q34). Evidence from two cases with 46,XY,t(13;Y)(q11;q34). Hum Genet 1982; 62: 358-60.
3. Peyvandi F, Duga S, Akhavan S, Mannucci PM. Rare coagulation deficiencies. Haemophilia 2002; 8: 308-21.
4. Cooper DN, Millar DS, Wacey A, Pemberton S, Tuddenham EG. Inherited factor X deficiency: molecular genetics and pathophysiology. Thromb Haemost 1997; 78: 161-72.
5. Peyvandi F, Menegatti M, Santagostino E, Akhavan S, Uprichard J, Perry DJ, Perkins SJ, Mannucci PM. Gene mutations and three-dimensional structural analysis in 13 families with severe factor X deficiency. Br J Haematol 2002; 117: 685-92.
6. Peyvandi F. Rare coagulation disorders, PhD Thesis. Milan: University of Milan, 2000.
7. Peyvandi F, Mannuci PM. Rare coagulation disorders. Thromb Haemost 1999; 82: 1207-14.
8. Peyvandi F, Mannucci PM, Lak M, Abdoullahi M, Zeinali S, Sharifian R, Perry D. Congenital factor X deficiency: spectrum of bleeding symptoms in 32 Iranian patients. Br J Haematol 1998; 102: 626-8.
9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=Search&DB= pubmed.
10. Millar DS, Elliston L, Deex P, Krawczak M, Wacey AI, Reynaud J, Nieuwenhuis HK, Bolton-Maggs P, Mannucci PM, Reverter JC, Cachia P, Pasi KJ, Layton DM, Cooper DN. Molecular analysis of the genotype-phenotype relationship in factor X deficiency. Hum Genet 2000; 106: 249-57.
11. Williams IJ, Abuzenadah A, Winship PR, Preston FE, Dolan G, Wright J, Peake IR, Goodeve AC. Precise carrier and prenatal diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for rapid mutation screening and polymorphism analysis. Thromb Haemost 1998; 79: 723-6.
12. Messier TL, Pittman DD, Long GL, Kaufman RJ, Church WR. Cloning and expression in COS-1 cells of a full-length cDNA encoding human coagulation factor X. Gene 1991; 99: 291-4.
13. Padmanabhan K, Padmanabhan KP, Tulinsky A, Park CH, Bode W, Huber R, Blankenship DT, Cardin AD, Kisiel W. Structure of human des(1-45) factor Xa at 2.2 A resolution. J Mol Biol 1993; 232: 947-66.
14. Guex N, Peitsch MC. SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling. Electrophoresis 1997; 18: 2714-23.
15. Wallmark A, Rose VL, Ho C, High KA. A NlaIV polymorphism within the human factor X gene. Nucleic Acids Res 1991; 19: 4022.
16. 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: 387-91.
17. Miyata T, Kojima T, Suzuki K, Umeyama H, Yamazaki T, Kamiya T, Toyoda H, Kato H. 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: 486-90.
18. Hertzberg M. Biochemistry of factor X. Blood Rev 1994; 8: 2-56.
19. Liebman HA, Furie BC, Furie B. The factor IX phospholipid-binding site is required for calcium-dependent activation of factor IX by factor XIa. J Biol Chem 1987; 262: 7605-12.
20. Morita T, Jackson CM. Preparation and properties of derivatives of bovine factor X and factor Xa from which the gamma-carboxyglutamic acid containing domain has been removed. J Biol Chem 1986; 261: 4015-23.
21. Wallmark A, Larson P, Ljung R, Monroe D, High KA. Molecular defect (Gla 26-Asp) and its functional consequences in a hereditary FX deficiency (factor X 'Malmo 4'). Blood 1991; 78: 229a.
22. Zama T, Murata M, Watanabe R, Yokoyama K, Moriki T, Ambo H, Murakami H, Kikuchi M, Ikeda Y. 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: 809-11.
23. http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html//. Hemophilia B mutation database-version 13. 2004. A database of point mutations and short additions and deletions in the factor IX gene.
24. Iijima K, Murakami M, Kimura O, Murakami F, Shimomura T, Ikawa S. A dysfunctional factor X (factor X Kurayoshi) with a substitution of Arg 139 for Ser at the carboxyl-terminus of the light chain. Thromb Res 2001; 101: 311-6.
25. Giansily-Blaizot M, Aguilar-Martinez P, Biron-Andreani C, Jeanjean P, Igual H, Schved JF, Study Group of Factor Seven Deficiency. Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency. Eur J Hum Genet 2001; 9: 105-12.
26. 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: 257-64.
27. Rudolph AE, Porche-Sorbet R, Miletich JP. Definition of a factor Va binding site in factor Xa. J Biol Chem 2001; 276: 5123-8.
28. Dewerchin M, Liang Z, Moons L, Carmeliet P, Castellino FJ, Collen D, Rosen ED. Blood coagulation factor X deficiency causes partial embryonic lethality and fatal neonatal bleeding in mice. Thromb Haemost 2000; 83: 185-90.
29. Vianello F, Lombardi AM, Dal Bello F, Zanon E, Cabrio L, Girolami A. Conformation sensitive gel electrophoresis for detection of factor X gene mutations. Thromb Res 2002; 107: 51-4.
30. 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: 501-2.