A New Mutation Trans to I278T Cystathionine β-synthase Associated with Factor V Leiden Causes Mild Homocystinuria but Severe Vascular Disease

• References

• 1 Den Hejer M, Koster T, Blom HJ, Bos GMJ, Briet E, Reitsma PH, Vanderbrouckhe JP, Rosendal FR. Hyperhomocysteinemia as a risk factor for deep vein thrombosis. N Engl J Med 1996; 334: 759.
• 2 McCully KS. Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis. Am J Pathol 1969; 56 (Suppl. 01) 111-28.
• 3 Kozic V, Kraus E, de Franchis R, Flower B, Boers GHJ, Graham I, Kraus JP. Hyperhomocysteinemia in premature arterial disease: examination of cystathionine α-synthase alleles at the molecular level. Hum Mol Genet 1995; 4: 623-9.
• 4 Bertina RM, Koeleman BPC, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van Der Velden PA, Reitsma P. Mutation in blood coagulation factor V associated with resistance to activated Protein C. Nature 1994; 369: 64-7.
• 5 Kluijtmans LAJ, Boers GHJ, Verbruggen B, Trijbels FJM, Novakova IRO, Blom HJ. Homozygous cystathionine β-synthase deficiency, combined with Factor V Leiden or Thermolabile methylentetrahydrofolate reductase in the risk of venous thrombosis. Blood 1998; 91: 2015-8.
• 6 Yap S, O’Donnell KA, Neil CO, Mayne PD, Thornton P, Naughten E. Factor V Leiden (Arg506Gln), a confounding genetic risk factor but not mandatory for the occurrence of venous thromboembolism in homozygotes and obligate heterozygotes for Cystathionine β-synthase deficiency. Thromb Haemost 1999; 81: 502-5.
• 7 Mandel H, Brenner B, Berant M, Rosenberg N, Lanir N, Jakobs C, Fowler B, Seligsohn U. Coexistance of hereditary homocystinuria and factor V Leiden effect on thrombosis. N Engl J Med 1996; 334: 753.
• 8 Kraus JP, Janosik M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, De Franchis R. et al. Cystathionine β-synthase mutations in homocystinuria. Human Mutation 1999; 13: 362-75.