A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency

Flemming Skovby; Mette Gaustadnes; S Harvey Mudd

doi:10.1016/j.ymgme.2009.09.009

A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency

Flemming Skovby, Mette Gaustadnes, S Harvey Mudd

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

119 Citations (Scopus)

Abstract

We review the evidence that in Denmark and probably certain other European countries the number of individuals identified with homocystinuria due to homozygosity for the widespread c.833T>C (p.I278T) mutation in the gene that encodes cystathionine beta-synthase (CBS) falls far short of the number of such individuals expected on the basis of the heterozygote frequency for this mutation found by molecular screening. We conclude that the predominant portion of such homozygotes may be clinically unaffected, or may be ascertained for thromboembolic events occurring no sooner than the third decade of life. If so, there was significant ascertainment bias in the time-to-event curves previously published describing the natural history of untreated CBS deficiency Mudd et al. and these curves should be used with care.

Original language	English
Journal	Molecular Genetics and Metabolism
Volume	99
Issue	1
Pages (from-to)	1-3
Number of pages	2
ISSN	1096-7192
DOIs	https://doi.org/10.1016/j.ymgme.2009.09.009
Publication status	Published - 2010

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10.1016/j.ymgme.2009.09.009

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title = "A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency",

abstract = "We review the evidence that in Denmark and probably certain other European countries the number of individuals identified with homocystinuria due to homozygosity for the widespread c.833T>C (p.I278T) mutation in the gene that encodes cystathionine beta-synthase (CBS) falls far short of the number of such individuals expected on the basis of the heterozygote frequency for this mutation found by molecular screening. We conclude that the predominant portion of such homozygotes may be clinically unaffected, or may be ascertained for thromboembolic events occurring no sooner than the third decade of life. If so, there was significant ascertainment bias in the time-to-event curves previously published describing the natural history of untreated CBS deficiency Mudd et al. and these curves should be used with care.",

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A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency. / Skovby, Flemming; Gaustadnes, Mette; Mudd, S Harvey.
In: Molecular Genetics and Metabolism, Vol. 99, No. 1, 2010, p. 1-3.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

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T1 - A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency

AU - Skovby, Flemming

AU - Gaustadnes, Mette

AU - Mudd, S Harvey

PY - 2010

Y1 - 2010

N2 - We review the evidence that in Denmark and probably certain other European countries the number of individuals identified with homocystinuria due to homozygosity for the widespread c.833T>C (p.I278T) mutation in the gene that encodes cystathionine beta-synthase (CBS) falls far short of the number of such individuals expected on the basis of the heterozygote frequency for this mutation found by molecular screening. We conclude that the predominant portion of such homozygotes may be clinically unaffected, or may be ascertained for thromboembolic events occurring no sooner than the third decade of life. If so, there was significant ascertainment bias in the time-to-event curves previously published describing the natural history of untreated CBS deficiency Mudd et al. and these curves should be used with care.

AB - We review the evidence that in Denmark and probably certain other European countries the number of individuals identified with homocystinuria due to homozygosity for the widespread c.833T>C (p.I278T) mutation in the gene that encodes cystathionine beta-synthase (CBS) falls far short of the number of such individuals expected on the basis of the heterozygote frequency for this mutation found by molecular screening. We conclude that the predominant portion of such homozygotes may be clinically unaffected, or may be ascertained for thromboembolic events occurring no sooner than the third decade of life. If so, there was significant ascertainment bias in the time-to-event curves previously published describing the natural history of untreated CBS deficiency Mudd et al. and these curves should be used with care.

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DO - 10.1016/j.ymgme.2009.09.009

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JO - Molecular Genetics and Metabolism

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A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency

Abstract

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