Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family

Hum Genet. 1995 Feb;95(2):238-40. doi: 10.1007/BF00209413.


Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase gene (CYP27). So far several mutations causing CTX have been identified and characterized. A new mutation creating an insertion of cytosine at position 6 in the cDNA, which is expected to result in a frameshift and a premature termination codon at codon 179, has been identified in a French family. The mutation creates a new site for the restriction endonuclease HaeIII.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adult
  • Base Sequence
  • Brain Diseases / genetics*
  • Child
  • Cholestanetriol 26-Monooxygenase
  • Codon, Terminator / genetics*
  • Cytochrome P-450 Enzyme System / genetics*
  • Female
  • France
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Steroid Hydroxylases / genetics*
  • Xanthomatosis / genetics*


  • Codon, Terminator
  • Cytochrome P-450 Enzyme System
  • Steroid Hydroxylases
  • CYP27A1 protein, human
  • Cholestanetriol 26-Monooxygenase