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

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Title: Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene
Authors: Sasamura, Akari / Akazawa, Satoru / Haraguchi, Ai / Horie, Ichiro / Ando, Takao / Abiru, Norio / Takei, Hajime / Nittono, Hiroshi / Une, Mizuho / Kurosawa, Takao / Murai, Tsuyoshi / Naruse, Hiromu / Nakayama, Tomohiro / Kotani, Kazuhiko / Remaley, Alan T. / Kawakami, Atsushi
Issue Date: 1-Jun-2018
Publisher: 日本内科学会
Citation: Internal Medicine, 57(11), pp.1611-1616; 2018
Abstract: 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.
Keywords: cerebrotendinous xanthomatosis (CTX) / sterol 27-hydroxylase (CYP27A1) / cholestanol / norcholic acid / chenodeoxycholic acid (CDCA) / cholesterol efflux
URI: http://hdl.handle.net/10069/38368
ISSN: 09182918
DOI: 10.2169/internalmedicine.0120-17
Rights: © 2018 by The Japanese Society of Internal Medicine
Type: Journal Article
Text Version: publisher
Appears in Collections:Articles in academic journal

Citable URI : http://hdl.handle.net/10069/38368

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