Hypofibrinogenaemia associated with common γ82Ala→Gly mutation is not mediated by altered mRNA splicing

Thromb Haemost 2006; 96(04): 535-537
DOI: 10.1160/TH06-06-0299

Case Report

Schattauer GmbH

Stephen O. Brennan

¹Canterbury Health Laboratories, Christchurch, New Zealand

²Christchurch School of Medicine, University of Otago, Christchurch, New Zealand

,

Vivienne M. Homer

¹Canterbury Health Laboratories, Christchurch, New Zealand

,

Ryan L. Davis

²Christchurch School of Medicine, University of Otago, Christchurch, New Zealand

,

Michael Meyer

³Department of Biomedical Engineering, University of Applied Sciences, Jena, Germany

,

Peter M. George

¹Canterbury Health Laboratories, Christchurch, New Zealand

²Christchurch School of Medicine, University of Otago, Christchurch, New Zealand

References
1 Behague I, Poirier O, Nicaud V. et al. β fibrinogen gene polymorphisms are associated with plasma fibrinogen and coronary artery disease in patients with myocardial infarction. Circulation 1996; 93: 440-9.
2 Wilhelmsen L, Svardsudd Korsan-BengtsenK. et al. Fibrinogen as a risk factor for stroke and myocardial infarction. N Engl J Med 2001; 311: 501-5.
3 Redman CM, Xai H. A review of the expression, assembly, secretion and intracellular degradation of fibrinogen. Fibrinol Proteolysis 2000; 14: 198-205.
4 Brennan SO, Fellowes AP, Faed JM. et al. Hypofibrinogenemia in an individual with two coding (γ82 Ala→Gly and Bβ235 Pro→Leu) and two non-coding mutations. Blood 2000; 95: 1709-13.
5 Wyatt J, Brennan SO, May S. et al. Hypofibrinogenaemia with compound heterozygosity for two ? chain mutations; γ82 Ala→Gly and an intron two GT→AT splice site mutation. Thromb Haemost 2000; 84: 449-52.
6 Ivaskievicius V, Jusciute E, Steffens M. et al. γAla82Gly represents a common fibrinogen γ-chain variant in Caucasians. Blood Coagul Fibrinol 2005; 16: 205-8.
7 Rogozin IB, Milanesi L. Analysis of donor splice signals in different organisms. J Mol Evol 1997; 45: 50-9.
8 Attanasio C, de Moerloose P, Antonarakis SE. et al. Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G-->T. Blood 2001; 97: 1879-81.