title: Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis.
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.
authors.affiliation: Department of Neurology, University Hospital Nijmegen, The Netherlands. A.Verrips@czzoneu.azn.nl
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: R A
authors.initials: RA
authors.lastname: Wevers
authors.forename: J H
authors.initials: JH
authors.lastname: Wokke
authors.forename: F J
authors.initials: FJ
authors.lastname: Gabreëls
authors.forename: B G
authors.initials: BG
authors.lastname: Wolthers
authors.forename: L P
authors.initials: LP
authors.lastname: van den Heuvel
mesh_terms: D000328:Adult; D053493:Cholestanetriol 26-Monooxygenase; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009426:Netherlands / Q000453:epidemiology; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D012326:RNA Splicing / Q000235:genetics*; D013250:Steroid Hydroxylases / Q000235:genetics*; D019294:Xanthomatosis, Cerebrotendinous / Q000453:epidemiology / Q000209:etiology* / Q000235:genetics*
chemical_list: D003577:Cytochrome P-450 Enzyme System; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase