Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene

被引：7

作者：

Sasamura, Akari ^{[1
]}

Akazawa, Satoru ^{[1
]}

Haraguchi, Ai ^{[1
]}

Horie, Ichiro ^{[1
]}

Ando, Takao ^{[1
]}

Abiru, Norio ^{[1
]}

Takei, Hajime ^{[2
]}

Nittono, Hiroshi ^{[2
]}

Une, Mizuho ^{[3
]}

Kurosawa, Takao ^{[4
]}

Murai, Tsuyoshi ^{[4
]}

Naruse, Hiromu ^{[5
,6
]}

Nakayama, Tomohiro ^{[5
,7
]}

Kotani, Kazuhiko ^{[8
]}

Remaley, Alan T. ^{[9
]}

Kawakami, Atsushi ^{[1
]}

机构：

[1] Nagasaki Univ Hosp, Dept Endocrinol & Metab, Nagasaki, Japan

[2] Junshin Clin Bile Acid Inst, Tokyo, Japan

[3] Hiroshima Int Univ, Fac Pharmaceut Sci, Higashihiroshima, Japan

[4] Hlth Sci Univ Hokkaido, Sch Pharmaceut Sci, Tobetsu, Japan

[5] Nihon Univ, Sch Med, Dept Pathol & Microbiol, Div Lab Med, Tokyo, Japan

[6] Hlth Sci Res Inst Inc, Yokohama, Kanagawa, Japan

[7] Nihon Univ, Sch Med, Dept Pathol Microbiol, Div Compan Diagnost, Tokyo, Japan

[8] Jichi Med Univ, Div Community & Family Med, Shimotsuke, Japan

[9] NIH, Lipoprotein Metab Sect, Bldg 10, Bethesda, MD 20892 USA

来源：

INTERNAL MEDICINE | 2018年 / 57卷 / 11期

关键词：

cerebrotendinous xanthomatosis (CTX); sterol 27-hydroxylase (CYP27A1); cholestanol; norcholic acid; chenodeoxycholic acid (CDCA); cholesterol efflux; STEROL 27-HYDROXYLASE GENE; CHENODEOXYCHOLIC ACID; CHOLESTEROL; CELLS; MACROPHAGES; ELIMINATION; METABOLISM; DIAGNOSIS; ENZYME;

D O I：

10.2169/internalmedicine.0120-17

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive, inborn disruption in bile acid synthesis characterized by severe systemic xanthomas, cataracts and neurological injuries occurring before adolescence without elevation of the serum cholesterol or triglyceride levels. CTX is caused by a deficiency of the mitochondrial enzyme sterol 27-hydroxylase, which is encoded by the CYP27A1 gene. We herein report a 50-year-old Japanese woman with late-onset CTX who had no relevant symptoms before the development of bilateral Achilles tendon xanthomas in middle age. A genetic analysis revealed a compound heterozygous mutation in the CYP27A1 gene with a previously known missense mutation (NM_000784.3:c.1421 G>A) and a novel frame shift mutation of NM_000784.3:c.1342_1343insCACC.

引用

页码：1611 / 1616

页数：6

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