Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: Report on three novel mutations E176K, W409X and 1223+37 de199
Abstrakt
Homocystinuria due to cystathionine β-synthase (CBS) deficiency (EC 4.2.1.22,McKusick 236200) is a clinically and biochemically well defined disorder of sulphur aminoacid metabolism (Mudd et al 1995). During the last twenty years our laboratory diagnosedCBS deficiency in 19 Czech and Slovak patients.
The data show that CBS deficiency is themost frequent cause of severe hyperhomocysteinaemia among these Western Slavs, withan estimated incidence of 1:240000.The molecular basis of cystathionine β-synthase deficiency has been studied extensivelyby several groups in about 150 alleles worldwide, and over 50 different mutations havebeen found so far (J.P. Kraus, unpublished results).
We have analysed the CBS gene in 12Czech and Slovak homocystinuric patients and here we report the first results, includingthree novel mutations