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Characterization of cystathionine β-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6

Abstract:

This study describes for the first time the cystathionine β-synthase (CBS) gene mutations in Venezuelan patients. A total of five disease-causing mutations were identified in 9 out of 10 independent chromosomes. Four of the mutations have been previously described (G85R, T191M, D234N, and D444N) and a novel mutation was found (Q243X). Two common polymorphisms (699C/T and 1080C/T) were found in the CBS gene. Mutation analysis was performed using a combined screening approach for CBS mutations: restriction analysis, single-strand conformational polymorphism (SSCP) scanning, and sequencing. All the mutations were detected in homozygous state, except for Q243X, detected in three heterozygous siblings. Each one of the patients studied presented a different mutation. All mutations and polymorphisms detected involved hypermutable CpG sites, except for the novel mutation Q243X. The most …