Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis

A Verrips; G C Steenbergen-Spanjers; J A Luyten; R A Wevers; J H Wokke; F J Gabreëls; B G Wolthers; L P van den Heuvel

doi:10.1007/s004390050506

Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis

Hum Genet. 1997 Aug;100(2):284-6. doi: 10.1007/s004390050506.

Authors

A Verrips¹, G C Steenbergen-Spanjers, J A Luyten, R A Wevers, J H Wokke, F J Gabreëls, B G Wolthers, L P van den Heuvel

Affiliation

¹ Department of Neurology, University Hospital Nijmegen, The Netherlands. A.Verrips@czzoneu.azn.nl

PMID: 9254865
DOI: 10.1007/s004390050506

Abstract

We report a new mutation in the sterol 27-hydroxylase (CYP 27) gene in a Dutch family with cerebrotendinous xanthomatosis: a G-->A transition in the splice donor site in intron 4. This mutation leads to skipping of exon 4, resulting in a loss of 66 amino acids in the CYP 27 enzyme molecule.

Publication types

Case Reports

MeSH terms

Adult
Cholestanetriol 26-Monooxygenase
Cytochrome P-450 Enzyme System / genetics*
Exons / genetics
Female
Humans
Male
Middle Aged
Netherlands / epidemiology
Point Mutation*
Polymorphism, Single-Stranded Conformational
RNA Splicing / genetics*
Steroid Hydroxylases / genetics*
Xanthomatosis, Cerebrotendinous / epidemiology
Xanthomatosis, Cerebrotendinous / etiology*
Xanthomatosis, Cerebrotendinous / genetics*

Substances

Cytochrome P-450 Enzyme System
Steroid Hydroxylases
CYP27A1 protein, human
Cholestanetriol 26-Monooxygenase