Benign FGB (148Lys→Asn, and 448Arg→Lys), and novel causative →211Tyr→His mutation distinguished by time of flight mass spectrometry in a family with hypofibrinogenaemia

Thrombosis and Haemostasis

Volumn 111, Issue 4, 2013, Pages 679-684

  Brennan, Stephen O ^a,b   Mangos, Hilda ^c   Faed, James M ^c,d  

^a UNIVERSITY OF OTAGO   (New Zealand)

^b CANTERBURY HEALTH LABORATORIES   (New Zealand)

^c DUNEDIN HOSPITAL   (New Zealand)

^d UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

Fibrin; Fibrinogen; Gene expression; Gene mutations; Inherited coagulation disorders; Time of flight MS

Indexed keywords

FIBRINOGEN; BBETA FIBRINOGEN;

ADULT; ARTICLE; BETA CHAIN; BLEEDING; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; GENE MUTATION; GENE SEGREGATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYPOFIBRINOGENEMIA; MALE; MIDDLE AGED; PRIORITY JOURNAL; TIME OF FLIGHT MASS SPECTROMETRY; AFIBRINOGENEMIA; CHEMISTRY; ELECTROSPRAY MASS SPECTROMETRY; FAMILY; GENETICS; GENOTYPE; HEMORRHAGE; MOLECULAR WEIGHT; MUTATION; NEW ZEALAND; NUCLEOTIDE SEQUENCE; PEDIGREE; PLASMA; PROCEDURES;

AFIBRINOGENEMIA; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; FAMILY; FIBRINOGEN; GENOTYPE; HEMORRHAGE; HUMANS; MALE; MIDDLE AGED; MOLECULAR WEIGHT; MUTATION; NEW ZEALAND; PEDIGREE; PLASMA; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION;

EID: 84897565168     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH13-08-0657     Document Type: Article

References (19)

1. Tennent GA, Brennan SO, Stangou AJ, et al. Human plasma fibrinogen is synthesized in the liver. Blood 2007; 109: 1971-1974.
2. Huang S, Cao Z, Chung DW, et al. The role of βγ and αγ complexes in the assembly of human fibrinogen. J Biol Chem 1996; 271: 27942-27947.
3. Mizuochi T, Taniguchi T, Asami Y, et al. Comparative studies on the structure of the charbohydrate moieties of human fibrinogen and abnormal fibrinogen Nagoya. J Biochem 1982; 92: 283-293.
4. Hanss M, Biot F. A database for human fibrinogen variants. Ann NY Acad Sci 2001; 936: 89-90. Available at: http://www.geht.org/databaseang/fibrinogen/.
5. Haverkate F, Samama M. Familial dysfibrinogenaemia and thrombophilia. Report on a study of the SSC subcommittee on fibrinogen. Thromb Haemost 1995: 73: 151-161.
6. Brennan SO, Davis RL, Conard K, et al. Novel fibrinogen mutation γ314ThrPro (fibrinogen AI du-Pont) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia. Liver Int 2010; 30: 1541-1547.
7. Lefebvre P, Velasco PT, Dear A, et al. Coagulopathy in compound heterozygotes with the fibrinogen Aα ivs-4 mutation and AαGln328 truncation (fibrinogen Keokuk). Blood 2004; 103: 2571-2576.
8. Davis RL, Homer VM, George PM, et al. A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif which leads to aberrant mRNA splicing and afibrinogenemia that can be corrected in vitro with antisense oligonucleotide treatment. Human Mutation 2009: 30; 221-227.
9. Brennan SO, Hammonds B, George PM. Aberrant hepatic processing causes removal of activation peptide and primary polymerisation site from fibrinogen Canterbury (Aα20 Val→Asp). J Clin Invest 1995; 96: 2854-2858.
10. Schmidt D, Brennan SO, Modified form of the Fibrinogen Bβ Chain (des-Gln Bβ); a potential long term marker of pancreatitis. Clin Chem 2007; 53: 2105-2111.
11. Brennan SO, Meera C. Hypodysfibrinogenaemia and thrombosis in association with a new fibrinogen γ chain with two mutations (γ114Tyr→His, and γ320Asp deleted) Thromb Haemost 2013; 109: 1180-1182.
12. Brennan SO, Davis RL. Substitution (γ335Trp→Arg) in fibrinogen Fremantle causes diminished γ chain expression and increased sialic acid content. Thromb Haemost 2010; 104: 1274-1276.
13. Maghzal G, Brennan SO, Fellowes AP, et al. Familial hypofibrinogenaemia associated with heterozygous substitution of a conserved arginine residue; Bbeta255 Arg-His (Fibrinogen Merivale). Biochim Biophys Acta 2003; 1645: 146-151.
14. Yee VC, Pratt KP, Cote HCF, et al. Crystal structure of a 30 kDa C-terminal fragment from the γ chain of human fibrinogen. Structure 1997; 5: 125-138.
15. Hanss M, French P, Vinciguerra C, et al. Four cases of hypofibrinogenemia associated with four novel mutations. J Thromb Haemost 2005; 3: 2347-2349.
16. Brennan SO, Sheen CR, George PM. Novel γ230 Asn→Asp Substitution in Fibrinogen Middlemore Associated Hypofibrinogenaemia. Thromb Haemost 2005; 93: 1196-1197.
17. Vu D, de Moerloose P, Batorova A, et al. Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion. J Med Genet 2005; 42: e57.
18. Davis RL, Mosesson MW, Kerlin B, et al. Fibrinogen Columbus: a novel γ Gly200Val mutation causing hypofibrinogenaemia in a family with associated thrombophilia. Haematologica 2007; 94: 1151-1152.
19. PolyPhen-2 prediction of functional effects of human nsSNPs. Available at: http://genetics.bwh.harvard.edu/pph2/.