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BMC Neurology

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Open Access 01-12-2011 | Case report

2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis

Authors: Di Tian, Zai-qiang Zhang

Published in: BMC Neurology | Issue 1/2011

Abstract

Background

Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. We investigated the clinic manifestation, histopathology and sterol 27-hydroxylase gene (CYP27A1) in a Chinese family with Cerebrotendinous Xanthomatosis (CTX).

Case Presentation

A 36-year-old female with typical CTX clinical manifestation had Spindle-shaped lipid crystal clefts in xanthomas and "onion-like demyelination" in sural nerve. The patient was compound heterozygote carrying two deletions in exon 1 (c.73delG) and exon 2 (c.369_375delGTACCCA). The family memebers were carriers.

Conclusions

A Chinese family with Cerebrotendinous Xanthomatosis had typical clinical manifestation. CYP27A1 mutations were found in the proband and all other family members.

Available only for authorised users

Bjorkhem I, Muri-Boberg K, Leitersdorf E: Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol. The Metabolic Basis of Inherited Diseases. Edited by: Scriver CR, Beaudet AL, Sly WS, Valle D. 2001, McGraw-Hill, New York, 2961-2988. 8

Cali JJ, Hsieh CL, Francke U, Russel DW: Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem. 1991, 266 (12): 7779-83.PubMedPubMedCentral

Seyama Y: Cholesterol metabolism, molecular pathology and nutritional implications. J Med Food. 2003, 6: 217-24. 10.1089/10966200360716634.CrossRefPubMed

Gallus GN, Dotti MT, Federico A: Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a reveiw of the mutations in the CYP27A1 gene. Neurol Sci. 2006, 27: 143-149. 10.1007/s10072-006-0618-7.CrossRefPubMed

Hansson M, Olin M, Floren C-H, et al: Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase. J Intern Med. 2007, 261 (5): 504-10. 10.1111/j.1365-2796.2007.01782.x.CrossRefPubMed

Nozue Tsuyoshi, Higashikata Toshinori, Inazu Akihiro, et al: Identification of a Novel Missense Mutation in the Sterol 27-Hydroxylase Gene in Two Japanese Patients with Cerebrotendinous Xanthomatosis. Inter Med. 2010, 49: 1127-1131. 10.2169/internalmedicine.49.3277.CrossRef

Schneider1 Hauke, Lingesleben Alexandra, Vogel Hans-Peter, et al: A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis. Orphanet Journal of Rare Diseases. 2010, 5: 27-10.1186/1750-1172-5-27.CrossRefPubMedPubMedCentral

Gallus GN, Dotti MT, Mignarri A, et al: Four novel CYP27A1 mutations in seven Italian patients with CTX. Eur J Neurol. 2010, 17: 1259-1262. 10.1111/j.1468-1331.2010.03002.x.CrossRefPubMed

The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2377/11/130/prepub

Title: 2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis
Authors: Di Tian
Zai-qiang Zhang
Publication date: 01-12-2011
Publisher: BioMed Central
Published in: BMC Neurology / Issue 1/2011
Electronic ISSN: 1471-2377
DOI: https://doi.org/10.1186/1471-2377-11-130

Keynote webinar | Spotlight on medication adherence

Springer Medicine

2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis

Abstract

Background

Case Presentation

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case Presentation

Conclusions

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