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01-11-2011 | Case Report

A compound heterozygous mutation of CYP27A1 gene in a Taiwanese patient with cerebrotendinous xanthomatosis

Authors: Wen-Chau Chen, Kuo-Chen Wu, Chih-Hsiung Hu, Tai-Chang Chern, I-Ming Jou

Published in: Journal of Orthopaedic Science | Issue 6/2011

Excerpt

Cerebrotendinous xanthomatosis (CTX, OMIM: 213700) is a rare inherited autosomal recessive lipid storage disorder with multiple system involvement. The disease is caused by mutations in the gene encoding sterol 27-hydroxylase (CYP27A1), leading to a block in bile synthesis, with accumulation of substrates for this enzyme, including cholesterol, resulting in an increase in the conversion of cholesterol to cholestanol. Clinically, CTX is characterized by tendon xanthomas, juvenile cataracts, premature atherosclerosis, and progressive neurological deficits [1]. We report the mutation analysis of a Taiwanese patient with CTX involving only the Achilles tendon. …

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Nakashima N, Sakai Y, Sakai H, Yanase T, Haji M, Umeda F, Koga S, Hoshita T, Nawata H. A point mutation in the bile acid biosynthetic enzyme sterol 27-hydroxylase in a family with cerebrotendinous xanthomatosis. J Lipid Res. 1994;35:663–8.PubMed

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Title: A compound heterozygous mutation of CYP27A1 gene in a Taiwanese patient with cerebrotendinous xanthomatosis
Authors: Wen-Chau Chen
Kuo-Chen Wu
Chih-Hsiung Hu
Tai-Chang Chern
I-Ming Jou
Publication date: 01-11-2011
Publisher: Springer Japan
Published in: Journal of Orthopaedic Science / Issue 6/2011
Print ISSN: 0949-2658
Electronic ISSN: 1436-2023
DOI: https://doi.org/10.1007/s00776-011-0072-0

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A compound heterozygous mutation of CYP27A1 gene in a Taiwanese patient with cerebrotendinous xanthomatosis

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Keynote webinar | Spotlight on medication adherence

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