title: Japanese triplets with cerebrotendinous xanthomatosis are homozygous for a mutant gene coding for the sterol 27-hydroxylase (Arg441Trp).
abstract: We present the first case of triplets with cerebrotendinous xanthomatosis (CTX). A C-to-T base change identified in the genomic DNA and cDNA encoding the sterol 27-hydroxylase led to replacement of arginine by tryptophan at position 441 (Arg441Trp) in the triplets. The triplets were homozygous and their mother was heterozygous for this mutant gene. The triplets exhibited an identical phenotypic expression, which was different from that of a sporadic CTX case with the same mutation.
authors.affiliation: Department of Medical Genetics, Nara Medical University, Nara, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Nagai
authors.forename: M
authors.initials: M
authors.lastname: Hirano
authors.forename: T
authors.initials: T
authors.lastname: Mori
authors.forename: Y
authors.initials: Y
authors.lastname: Takakura
authors.forename: S
authors.initials: S
authors.lastname: Tamai
authors.forename: S
authors.initials: S
authors.lastname: Ueno
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001120:Arginine; D001483:Base Sequence; D015152:Blotting, Northern; D053493:Cholestanetriol 26-Monooxygenase; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D017931:DNA Primers; D004200:Diseases in Twins; D005091:Exons; D005260:Female; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D007564:Japan; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012333:RNA, Messenger / Q000096:biosynthesis; D015183:Restriction Mapping; D013250:Steroid Hydroxylases / Q000235:genetics*; D014310:Triplets; D014364:Tryptophan; D014973:Xanthomatosis / Q000201:enzymology / Q000235:genetics*
chemical_list: D017931:DNA Primers; D012333:RNA, Messenger; D014364:Tryptophan; D003577:Cytochrome P-450 Enzyme System; D001120:Arginine; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase