The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype

Human Mutation
Michael LinnebankHans Georg Koch

Abstract

In homocystinuria due to cystathionine beta-synthase (CBS) deficiency, vitamin B6 response has been linked to distinct mutations and ruled out for others. The splice site mutation c.1224-2A>C leading to the deletion of exon 12 is predominantly found in patients from Central Europe, where it has been found on in average 14% of mutant alleles. In this study we analyzed the clinical picture in 17 CBS deficient carriers of c.1224-2A>C. Homozygotes for c.1224-2A>C did not respond to vitamin B6, while in compound heterozygotes the response to vitamin B6 depended on the mutation on the second allele. Maximum likelihood analysis revealed one common haplotype of the c.1224-2A>C alleles. Additionally, we report the four novel CBS mutations c.451G>A (p.Gly151?), c.740_769del (p.Lys247_Gly256del), c.862G>C (p.Ala288Pro) and c.1135C>T (p.Arg379Trp). In summary, the data of this study suggest that the CBS c.1224-2A>C allele confers vitamin B6 nonresponsiveness and that this mutant allele came from a common ancestor.

Citations

Jul 5, 2005·Clinica Chimica Acta; International Journal of Clinical Chemistry·Marianna P R PortoVânia D Almeida
Oct 30, 2010·Clinical Chemistry·Olajumoke OladipoMarwan Shinawi
Dec 17, 2016·Journal of Cellular Biochemistry·Avisek MajumderSuresh C Tyagi
Aug 10, 2020·Free Radical Biology & Medicine·Olga UtyroHieronim Jakubowski

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