title: Identification of a novel missense mutation in the sterol 27-hydroxylase gene in two Japanese patients with cerebrotendinous xanthomatosis.
abstract: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive sterol storage disease caused by a mutated sterol 27-hydroxylase (CYP27A1) gene. We analyzed the CYP27A1 gene in two Japanese CTX patients. The CYP27A1 gene was amplified by PCR and screened by PCR-SSCP. The nucleotide sequence was analyzed to confirm mutations. Case 1 was a compound heterozygote for Arg104Gln in exon 2 and Arg441Gln in exon 8. To our knowledge, this is the first report in which the Arg104Gln mutation is identified in CTX patients. Probably case 2 would be a compound heterozygote for Arg441Trp in exon 8 and a mutation that was not identified.
authors.affiliation: Division of Cardiology, Department of Internal Medicine, Yokohama Sakae Kyosai Hospital, Federation of National Public Service Personnel Mutual Associations, Yokohama, Japan. nozue2493@yahoo.co.jp
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Nozue
authors.forename: Toshinori
authors.initials: T
authors.lastname: Higashikata
authors.forename: Akihiro
authors.initials: A
authors.lastname: Inazu
authors.forename: Masa-aki
authors.initials: MA
authors.lastname: Kawashiri
authors.forename: Atsushi
authors.initials: A
authors.lastname: Nohara
authors.forename: Junji
authors.initials: J
authors.lastname: Kobayashi
authors.forename: Junji
authors.initials: J
authors.lastname: Koizumi
authors.forename: Masakazu
authors.initials: M
authors.lastname: Yamagishi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Mabuchi
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics*; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics*; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D019294:Xanthomatosis, Cerebrotendinous / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics*
chemical_list: D053493:Cholestanetriol 26-Monooxygenase