Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C > T (p.R369C) in the Cystathionine Beta-Synthase Gene

Abstract

The study showed pathogenicity of a common mutation c.1105C>T (p. R369C) and predicts that incidence of homocystinuria in Czech population may be 20-times higher than usually diagnosed.

Keywords

• deficiency
• homocysteine
• phenotype
• genotype
• screening
• cystathionine beta-synthase
• expression