High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application

Thromb Haemost. 2001 Jun;85(6):986-8.


Classical homocystinuria due to cystathionine beta-synthase deficiency is one of the disorders revealing a high risk of thromboembolic events and vascular disease. This autosomal-recessively inherited metabolic disorder is considered to be rare with an estimated prevalence of 1:130,000 in the German population. In this study, we developed a novel multiplex PCR generating allele specific fragment lengths to analyse individual genotypes of the two most frequent cystathionine beta-synthase alterations, the I278T mutation, which is worldwide found on up to the half of homocystinuric alleles, and the adjacent polymorphism 844ins68. Screening of 200 unrelated German control subjects revealed a frequency of heterozygosity of 1.5% for 1278T corresponding to a calculated frequency of homozygosity of 1:17.800. Our data indicate that homocystinuria due to cystathionine beta-synthase deficiency is a frequently unrecognized disorder resulting in a high risk of thromboembolic events.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cystathionine beta-Synthase / genetics*
  • Gene Frequency
  • Genetic Testing / methods*
  • Genotype
  • Germany / epidemiology
  • Heterozygote
  • Homocystinuria / diagnosis
  • Homocystinuria / epidemiology
  • Homocystinuria / genetics
  • Humans
  • Point Mutation*
  • Polymerase Chain Reaction / methods
  • Prevalence


  • Cystathionine beta-Synthase