We used single-strand conformational polymorphism and nucleotide sequencing to characterize defective cystathionine β-synthase gene alleles in 18 independent Irish patients with homocystinuria. Six mutations were detected, three of which have been reported previously and three of which were novel. The novel mutations include T302C (L101P), C684G (N228K), and G1063C (A354P). Of the three, only T302C (L101P) was somewhat prevalent, being found in 3 of 37 independent alleles.
Bibliographical noteFunding Information:
This work was supported in part by grants from the Irish Heart Foundation and the Irish Health Research Board to Alexander S. Whitehead and grants from the Minnesota Medical Foundation of the University of Minnesota and the American Heart Association, Minnesota Affiliate, to Michael Y. Tsai.
- B-nonresponsive homocystinuria
- Cystathionine β-synthase
- Cystathionine β-synthase genetic variants
- Mutation analysis