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

BMC Neurol. 2011 Oct 21;11:130. doi: 10.1186/1471-2377-11-130.


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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Asian Continental Ancestry Group / genetics*
  • Base Sequence / genetics*
  • Cholestanetriol 26-Monooxygenase / genetics*
  • Female
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Polymerase Chain Reaction
  • Sequence Deletion / genetics*
  • Xanthomatosis, Cerebrotendinous / genetics*
  • Xanthomatosis, Cerebrotendinous / physiopathology


  • Cholestanetriol 26-Monooxygenase