Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis |
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Authors: | A. Verrips Gerry C. H. Steenbergen-Spanjers J. A. F. M. Luyten L. P. W. J. van den Heuvel Antoine Keyser Fons J. M. Gabreëls Ron A. Wevers |
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Affiliation: | (1) Department of Neurology, University Hospital Nijmegen, Postbox 9101, 6500 HB Nijmegen, The Netherlands Tel.: +31-24-3613394; Fax: +31-24-3541122, NL;(2) Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, Postbox 9101, 6500 HB Nijmegen, The Netherlands, NL |
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Abstract: | This report concerns two new mutations in the sterol 27-hydroxylase gene in two patients with cerebrotendinous xanthomatosis (CTX). In a Surinam-Creole patient (patient A), a G deletion on position cDNA 546/547 in exon 3 led to a frameshift and the introduction of a premature termination codon. In a Dutch patient (patient B), a C→T transition at position 496 in exon 3 also led to a premature termination codon. Patient A was homozygous for the mutation, whereas patient B was compound heterozygous, a C→T transition also being found in exon 6 at position 1204. The two new mutations were confirmed by restriction analysis with the restriction enzymes FokI and MaeI, respectively. Received: 24 July 1996 / Revised: 9 August 1996 |
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