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

Paula M. Gallagher; Eileen Naughten; Naomi Q. Hanson; Kerry Schwichtenberg; Michelle Bignell; Min Yuan; Pat Ward; Sufin Yap; Alexander S. Whitehead; Michael Y Tsai

doi:10.1006/mgme.1998.2771

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

Paula M. Gallagher, Eileen Naughten, Naomi Q. Hanson, Kerry Schwichtenberg, Michelle Bignell, Min Yuan, Pat Ward, Sufin Yap, Alexander S. Whitehead, Michael Y Tsai

Laboratory Medicine and Pathology

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	298-302
Number of pages	5
Journal	Molecular Genetics and Metabolism
Volume	65
Issue number	4
DOIs	https://doi.org/10.1006/mgme.1998.2771
State	Published - Dec 1998

Bibliographical note

Funding 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.

Keywords

B-nonresponsive homocystinuria
Cystathionine β-synthase
Cystathionine β-synthase genetic variants
Homocystinuria
Mutation analysis

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title = "Characterization of mutations in the cystathionine β-synthase gene in Irish patients with homocystinuria",

abstract = "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.",

keywords = "B-nonresponsive homocystinuria, Cystathionine β-synthase, Cystathionine β-synthase genetic variants, Homocystinuria, Mutation analysis",

author = "Gallagher, {Paula M.} and Eileen Naughten and Hanson, {Naomi Q.} and Kerry Schwichtenberg and Michelle Bignell and Min Yuan and Pat Ward and Sufin Yap and Whitehead, {Alexander S.} and Tsai, {Michael Y}",

note = "Funding 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.",

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AU - Gallagher, Paula M.

AU - Naughten, Eileen

AU - Hanson, Naomi Q.

AU - Schwichtenberg, Kerry

AU - Bignell, Michelle

AU - Yuan, Min

AU - Ward, Pat

AU - Yap, Sufin

AU - Whitehead, Alexander S.

AU - Tsai, Michael Y

N1 - Funding 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.

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N2 - 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.

AB - 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.

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KW - Cystathionine β-synthase

KW - Cystathionine β-synthase genetic variants

KW - Homocystinuria

KW - Mutation analysis

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

Abstract

Bibliographical note

Keywords

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