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

Tsuyoshi Nozue; Toshinori Higashikata; Akihiro Inazu; Masa-aki Kawashiri; Atsushi Nohara; Junji Kobayashi; Junji Koizumi; Masakazu Yamagishi; Hiroshi Mabuchi

doi:10.2169/internalmedicine.49.3277

CASE REPORTS

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

Tsuyoshi Nozue, Toshinori Higashikata, Akihiro Inazu, Masa-aki Kawashiri, Atsushi Nohara, Junji Kobayashi, Junji Koizumi, Masakazu Yamagishi, Hiroshi Mabuchi

Author information

Tsuyoshi Nozue
Division of Cardiology, Department of Internal Medicine, Yokohama Sakae Kyosai Hospital, Federation of National Public Service Personnel Mutual Associations
Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Science
Toshinori Higashikata
Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Science
Division of Cardiovascular Medicine, Department of Internal Medicine, Komatsu Municipal Hospital
Akihiro Inazu
Division of Health Sciences, Kanazawa University Graduate School of Medical Science
Masa-aki Kawashiri
Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Science
Atsushi Nohara
Department of Lipidology, Kanazawa University Graduate School of Medical Science
Junji Kobayashi
Department of Lipidology, Kanazawa University Graduate School of Medical Science
Junji Koizumi
Department of General Medicine, Kanazawa University Hospital
Masakazu Yamagishi
Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Science
Hiroshi Mabuchi
Department of Lipidology, Kanazawa University Graduate School of Medical Science

Keywords: cerebrotendinous xanthomatosis, cholestanol, gene mutation, 27-hydroxylase, xanthoma

JOURNAL OPEN ACCESS

2010 Volume 49 Issue 12 Pages 1127-1131

DOI https://doi.org/10.2169/internalmedicine.49.3277

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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.

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