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The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria

Moat SJ, Bao L. and Fowler B, Bonham J. R. and Walter JH, Kraus J. P.. (2004) The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria. Human mutation, Vol. 23, no. 2. p. 206.

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Official URL: http://edoc.unibas.ch/dok/A5253354

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Abstract

The molecular basis of cystathionine ß-synthase (CBS) deficiency has been studied in 536 patient alleles with 130 different mutations described. To date, no study has reported on the incidence of any of the reported mutations in patients from the UK and the US. We developed a new antisense oligonucleotide (ASO) PCR/hybridization method to screen for 12 of the most frequent CBS mutations in 14 unrelated patients from the UK and 38 unrelated patients from the US, a total of 104 independent alleles. We determined 16/28 (57%) and 28/76 (37%) of the affected alleles in the UK and US patients, respectively. Four different mutations were identified in the UK patients (c.374G<A, R125Q; c.430G<A, E144K; c.833T<C, I278T; c.919G<A, G307S) and 8 mutations identified in the patients from the US (c.341C<T, A114V; c.374G<A, R125Q; c.785C<T, T262M; c.797G<A, R266K; c.833T<C, I278T; c.919G<A, G307S; g.13217A<C (del ex 12); c.1330G<A, D444N). The I278T was the predominant mutation in both populations, present in 8 (29%) of 28 independent alleles from the UK and in 14 (18%) of 76 independent alleles from the US. The incidence of the G307S mutation was 21% in the UK patients and 8% in the US patients. The spectrum of mutations observed in the patients from the UK and US is closer to that which is observed in Northern Europe and bears less resemblance to that observed in Ireland.
Faculties and Departments:03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Ehemalige Einheiten Pädiatrie (UKBB) > Labor (Fowler)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Ehemalige Einheiten Pädiatrie (UKBB) > Labor (Fowler)
UniBasel Contributors:Fowler, Brian
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Wiley-Liss
ISSN:1098-1004
Note:Publication type according to Uni Basel Research Database: Journal article
Identification Number:
Last Modified:22 Mar 2012 14:24
Deposited On:22 Mar 2012 13:39

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