Identification of a Novel Missense Mutation in the Sterol 27-Hydroxylase Gene in Two Japanese Patients with Cerebrotendinous Xanthomatosis

• Published in: Internal Medicine Vol. 49; no. 12; pp. 1127 - 1131
• Main Authors: Nozue, Tsuyoshi, Higashikata, Toshinori, Inazu, Akihiro, Kawashiri, Masa-aki, Nohara, Atsushi, Kobayashi, Junji, Koizumi, Junji, Yamagishi, Masakazu, Mabuchi, Hiroshi
• Format: Journal Article
• Language: English
• Published: Japan The Japanese Society of Internal Medicine 01-01-2010
• Subjects: 27-hydroxylase; Aged; Asian Continental Ancestry Group - genetics; cerebrotendinous xanthomatosis; Cholestanetriol 26-Monooxygenase - genetics; cholestanol; gene mutation; Genetic Carrier Screening; Humans; Male; Mutation, Missense - genetics; xanthoma; Xanthomatosis, Cerebrotendinous - diagnosis; Xanthomatosis, Cerebrotendinous - enzymology; Xanthomatosis, Cerebrotendinous - genetics
• ISSN: 0918-2918; 1349-7235; 1349-7235
• DOI: 10.2169/internalmedicine.49.3277

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.