title: Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis.
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.
authors.affiliation: Department of Neurology, University Hospital Nijmegen, The Netherlands.
authors.forename: A
authors.initials: A
authors.lastname: Verrips
authors.forename: G C
authors.initials: GC
authors.lastname: Steenbergen-Spanjers
authors.forename: J A
authors.initials: JA
authors.lastname: Luyten
authors.forename: L P
authors.initials: LP
authors.lastname: van den Heuvel
authors.forename: A
authors.initials: A
authors.lastname: Keyser
authors.forename: F J
authors.initials: FJ
authors.lastname: Gabreëls
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
mesh_terms: D000328:Adult; D053493:Cholestanetriol 26-Monooxygenase; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008875:Middle Aged; D016296:Mutagenesis; D018807:Polymorphism, Single-Stranded Conformational; D013250:Steroid Hydroxylases / Q000235:genetics*; D019294:Xanthomatosis, Cerebrotendinous / Q000235:genetics*
chemical_list: D003577:Cytochrome P-450 Enzyme System; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase