Nozue Tsuyoshi, Higashikata Toshinori, Inazu Akihiro, Kawashiri Masa-aki, Nohara Atsushi, Kobayashi Junji, Koizumi Junji, Yamagishi Masakazu, Mabuchi Hiroshi
Division of Cardiology, Department of Internal Medicine, Yokohama Sakae Kyosai Hospital, Federation of National Public Service Personnel Mutual Associations, Yokohama, Japan.
Intern Med. 2010;49(12):1127-31. doi: 10.2169/internalmedicine.49.3277. Epub 2010 Jun 15.
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.
脑腱黄瘤病（CTX）是一种罕见的常染色体隐性固醇贮积病，由固醇27-羟化酶（CYP27A1）基因突变引起。我们分析了两名日本CTX患者的CYP27A1基因。通过PCR扩增CYP27A1基因，并采用PCR-SSCP进行筛查。对核苷酸序列进行分析以确认突变。病例1为外显子2的Arg104Gln和外显子8的Arg441Gln的复合杂合子。据我们所知，这是首次在CTX患者中鉴定出Arg104Gln突变的报告。病例2可能是外显子8的Arg441Trp和一个未鉴定出的突变的复合杂合子。
