Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis.
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.
Verrips
A
A
Department of Neurology, University Hospital Nijmegen, The Netherlands. A.Verrips@czzoneu.azn.nl
Steenbergen-Spanjers
G C
GC
Luyten
J A
JA
Wevers
R A
RA
Wokke
J H
JH
Gabreëls
F J
FJ
Wolthers
B G
BG
van den Heuvel
L P
LP
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*
D003577:Cytochrome P-450 Enzyme System; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase