Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis

Hum Genet. 1997 Aug;100(2):284-6. doi: 10.1007/s004390050506.

Abstract

We report a new mutation in the sterol 27-hydroxylase (CYP 27) gene in a Dutch family with cerebrotendinous xanthomatosis: a G-->A transition in the splice donor site in intron 4. This mutation leads to skipping of exon 4, resulting in a loss of 66 amino acids in the CYP 27 enzyme molecule.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cholestanetriol 26-Monooxygenase
  • Cytochrome P-450 Enzyme System / genetics*
  • Exons / genetics
  • Female
  • Humans
  • Male
  • Middle Aged
  • Netherlands / epidemiology
  • Point Mutation*
  • Polymorphism, Single-Stranded Conformational
  • RNA Splicing / genetics*
  • Steroid Hydroxylases / genetics*
  • Xanthomatosis, Cerebrotendinous / epidemiology
  • Xanthomatosis, Cerebrotendinous / etiology*
  • Xanthomatosis, Cerebrotendinous / genetics*

Substances

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