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

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.

• Authors: Di Tian, Zai-Qiang Zhang
• Journal: BMC neurology (BMC Neurol) Vol. 11 Pg. 130 (Oct 21 2011) ISSN: 1471-2377 [Electronic] England
• PMID: 22018287 (Publication Type: Case Reports, Journal Article)

Chemical References

• Cholestanetriol 26-Monooxygenase

Topics

• Adult
• Asian People (genetics)
• Base Sequence (genetics)
• Cholestanetriol 26-Monooxygenase (genetics)
• Female
• Humans
• Male
• Molecular Sequence Data
• Pedigree
• Polymerase Chain Reaction
• Sequence Deletion (genetics)
• Xanthomatosis, Cerebrotendinous (genetics, physiopathology)