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.
Similar content being viewed by others
Author information
Authors and Affiliations
Additional information
Received: 24 July 1996 / Revised: 9 August 1996
Rights and permissions
About this article
Cite this article
Verrips, A., Steenbergen-Spanjers, G., Luyten, J. et al. Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis. Hum Genet 98, 735–737 (1996). https://doi.org/10.1007/s004390050294
Issue Date:
DOI: https://doi.org/10.1007/s004390050294