Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria

P M Gallagher; E Naughten; N Q Hanson; K Schwichtenberg; M Bignell; M Yuan; P Ward; S Yap; A S Whitehead; M Y Tsai

doi:10.1006/mgme.1998.2771

Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria

Mol Genet Metab. 1998 Dec;65(4):298-302. doi: 10.1006/mgme.1998.2771.

Authors

P M Gallagher¹, E Naughten, N Q Hanson, K Schwichtenberg, M Bignell, M Yuan, P Ward, S Yap, A S Whitehead, M Y Tsai

Affiliation

¹ Neuropathology Department, Beaumont Hospital, Dublin, 9, Ireland.

PMID: 9889017
DOI: 10.1006/mgme.1998.2771

Abstract

We used single-strand conformational polymorphism and nucleotide sequencing to characterize defective cystathionine beta-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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cystathionine beta-Synthase / genetics*
Homocystinuria / genetics*
Humans
Ireland
Mutation*
Polymorphism, Single-Stranded Conformational
Sequence Analysis, DNA

Substances

Cystathionine beta-Synthase