Genetic analysis enables definite and rapid diagnosis of cerebrotendinous xanthomatosis.
Mutations in the sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis (CTX). Early diagnosis of CTX is crucial because treatment with chenodeoxycholic acid can prevent or reverse some of the neurologic disability associated with the disease. We report the identification of three types of mutations (Arg441Trp, Arg372Gln, and Arg441Gln) in the CYP27 gene in five patients with suspected CTX from four unrelated families by restriction endonuclease analysis.
Chen
W
W
Department of Physiological Chemistry and Metabolism, Graduate School of Medicine, The University of Tokyo, Japan.
Kubota
S
S
Teramoto
T
T
Ishida
S
S
Ohsawa
N
N
Katayama
T
T
Takeda
T
T
Kuroda
K
K
Yahara
O
O
Kusuhara
T
T
Neshige
R
R
Seyama
Y
Y
D000328:Adult; D000368:Aged; D053493:Cholestanetriol 26-Monooxygenase; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D013250:Steroid Hydroxylases / Q000235:genetics*; D019294:Xanthomatosis, Cerebrotendinous / Q000175:diagnosis / Q000235:genetics*
D003577:Cytochrome P-450 Enzyme System; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase