Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family.
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase gene (CYP27). So far several mutations causing CTX have been identified and characterized. A new mutation creating an insertion of cytosine at position 6 in the cDNA, which is expected to result in a frameshift and a premature termination codon at codon 179, has been identified in a French family. The mutation creates a new site for the restriction endonuclease HaeIII.
Segev
H
H
Division of Medicine, Hadassah University Hospital, Jerusalem, Israel.
Reshef
A
A
Clavey
V
V
Delbart
C
C
Routier
G
G
Leitersdorf
E
E
D000328:Adult; D001483:Base Sequence; D001927:Brain Diseases / Q000235:genetics*; D002648:Child; D053493:Cholestanetriol 26-Monooxygenase; D018388:Codon, Terminator / Q000235:genetics*; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D005260:Female; D005602:France; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D013250:Steroid Hydroxylases / Q000235:genetics*; D014973:Xanthomatosis / Q000235:genetics*
D018388:Codon, Terminator; D003577:Cytochrome P-450 Enzyme System; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase