A novel nonsense mutation in the FGA gene in a Chinese family with congenital afibrinogenaemia

Blood Coagulation and Fibrinolysis

Volumn 16, Issue 3, 2005, Pages 221-226

  Wu, Shuyan ^a   Wang, Zhaoyue ^a   Dong, Ningzheng ^a   Bai, Xia ^a   Ruan, Changgeng ^a  

^a THE FIRST AFFILIATED HOSPITAL OF SOOCHOW UNIVERSITY   (China)

Author keywords

Congenital afibrinogenaemia; Fibrinogen; Gene; Nonsense mutation

Indexed keywords

FIBRINOGEN;

ADOLESCENT; AFIBRINOGENEMIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLEEDING TENDENCY; CASE REPORT; CHINESE; CODON; EXON; FAMILIAL DISEASE; FEMALE; FGA GENE; FGB GENE; FGG GENE; GENE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IMMUNE RESPONSE; INTRON; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; NULL ALLELE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RARE DISEASE; RESTRICTION MAPPING;

EID: 17444426284     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mbc.0000164434.51534.a8     Document Type: Article

References (27)

1. Lak M, Keihani M, Elahi F, Peyvandi F, Mannucci PM. Bleeding and thrombosis in 55 patients with inherited afibrinogenaemia. Br J Haematol 1999; 107:204-206.
2. Maghzal GJ, Brennan SO, Homer VM, George PM. The molecular mechanisms of congenital hypofibrinogenaemia. Cell Mol Life Sci 2004; 61:1427-1438.
3. Spena S, Duga S, Asselta R, Peyvandi F, Mahasandana C, Malcovati M, et al. Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen A alpha-chain gene. Eur J Hum Genet 2004; 12:891-898.
4. Neerman-Arbez M, Germanos-Haddad M, Tzanidakis K, Vu D, Deutsch S, David A, et al. Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells. Blood 2004; [Epub ahead of print].
5. Watanabe K, Shibuya A, Ishii E, Kurihara M, Inoue S, Ono M, et al. Identification of simultaneous mutation of fibrinogen [alpha] chain and protein C genes in a Japanese kindred. Br J Haematol 2003; 120:101-108.
6. Vlietman JJ, Verhage J, Vos HL, van Wijk R, Remijn JA, van Solinge WW, et al. Inherited afibrinogenaemia in a newborn infant due to a novel mutation in the fibrinogen A alpha gene. Br J Haematol 2002; 119:282-283.
7. Neerman-Arbez M, Honsberger A, Antonarakis SE, Morris MA. Deletion of the fibrinogen alpha-chain gene (FGA) causes inherited afibrinogenaemia, J Clin Invest 1999; 103:215-218.
8. Neerman-Arbez M, de Moerloose P, Bridel C, Honsberger A, Schonborner A, Rossier C, et al. Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenaemia. Blood 2000; 96:149-152.
9. Neerman-Arbez M. The molecular basis of inherited afibrinogenaemia. Thromb Haemost 2001; 89:154-163.
10. Neerman-Arbez M, de Moerloose P, Honsberger A, Parlier G, Arnuti B, Biron C, et al. Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenaemia: novel truncating mutations in the FGA and FGG genes. Hum Genet 2001; 108:237-240.
11. Neerman-Arbez M, Vu D, Abu-Libdeh B, Bouchardy I, Morris MA. Prenatal diagnosis for congenital afibrinogenaemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family. Blood 2003; 101:3492-3494.
12. Remijn JA, Van Wijk R, Nieuwenhuis HK, De Groot PG, Van Solinge WW. Molecular basis of congenital afibrinogenaemia in a Dutch family. Blood Coagul Fibrinolysis 2003; 14:299-302.
13. Attanasio C, de Moerloose P, Antonarakis SE, Morris MA, Neerman-Arbez M. Activation of multiple cryptic donor splice sites by the common congenital afibrinogenaemia mutation, FGA IVS4 + 1 G → T. Blood 2001; 97:1879-1881.
14. Attanasio C, David A, Neerman-Arbez M. Outcome of donor splice site mutations accounting for inherited afibrinogenaemia reflects order of intron removal in the fibrinogen alpha gene (FGA). Blood 2003; 101:1851-1856.
15. Asselta R, Duga S, Simonic T, Malcovati M, Santagostino E, Giangrande PL, et al. Afibrinogenaemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation. Blood 2000; 96:2496-2500.
16. Asselta R, Spena S, Duga S, Peyvandi F, Malcovati M, Mannucci PM, et al. Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenaemia. Haematologica 2002; 87:855-859.
17. Asselta R, Duga S, Spena S, Santagostino E, Peyvandi F, Piseddu G, et al. Inherited afibrinogenaemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs. Blood 2001; 98:3685-3692.
18. Duga S, Asselta R, Santagostino E, Zeinali S, Simonic T, Malcovati M, et al. Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenaemia by impairing fibrinogen secretion. Blood 2000; 95:1336-1341.
19. Iida H, Ishii E, Nakahara M, Urata M, Wakiyama M, Kurihara M, et al. A case of congenital afibrinogenaemia: fibrinogen Hakata, a novel nonsense mutation of the fibrinogen gamma-chain gene. Thromb Haemost 2000; 84:49-53.
20. Margaglione M, Santacroce R, Colaizzo D, Seripa D, Vecchione G, Lupone MR, et al. A G-to-A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenaemia due to abnormal RNA splicing. Blood 2000; 96:2501-2505.
21. Spena S, Duga S, Asselta R, Malcovati M, Peyvandi F, Tenchini ML. Congenital afibrinogenaemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites. Blood 2002; 100:4478-4484.
22. Spena S, Asselta R, Duga S, Malcovati M, Peyvandi F, Peyvandi F, et al. Congenital afibrinogenaemia: intracellular retention of fibrinogen due to a novel W437G mutation on the fibrinogen Bbeta-chain gene. Biochim Biophys Acta 2003; 1639:87-94.
23. Meyer M. Molecular biology of haemostasis: fibrinogen, factor XIII. Hamostaseologie 2004; 24:108-115.
24. Blomback B. Fibrinogen and fibrin-proteins with complex roles in hemostasis and thrombosis. Thromb Res 1996; 83:1-75.
25. Redman CM, Xia H. Fibrinogen biosynthesis. Assembly, intracellular degradation and association with lipid synthesis and secretion. Ann NY Acad Sci 2001; 936:480-495.
26. Brennan SO, Maghzal G, Shneider BL, Gordon R, Magid MS, George PM. Novel fibrinogen gamma375 Arg → Trp mutation (fibrinogen aguadilla) causes hepatic endoplasmic reticulum storage and hypofibrinogenemia. Hepatology 2002; 36:652-658.
27. Fellowes AP, Brennan SO, Holme R, Stormorken H, Brosstad FR, George PM. Homozygous truncation of the fibrinogen A alpha chain within the coiled coil causes congenital afibrinogenaemia. Blood 2000; 96:773-775.