Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis

• Published in: Human genetics Vol. 98; no. 6; p. 735
• Main Authors: Verrips, A, Steenbergen-Spanjers, G C, Luyten, J A, van den Heuvel, L P, Keyser, A, Gabreëls, F J, Wevers, R A
• Format: Journal Article
• Language: English
• Published: Germany 01.12.1996
• Subjects: Adult; Cholestanetriol 26-Monooxygenase; Cytochrome P-450 Enzyme System - genetics; Exons; Female; Humans; Middle Aged; Mutagenesis; Polymorphism, Single-Stranded Conformational; Steroid Hydroxylases - genetics; Xanthomatosis, Cerebrotendinous - genetics
• DOI: 10.1007/s004390050294
• ISSN: 0340-6717

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.