Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis

Hum Genet. 1996 Dec;98(6):735-7. doi: 10.1007/s004390050294.


This report concerns two new mutations in the sterol 27-hydroxylase gene in two patients with cerebrotendinous xanthomatosis (CTX). In a Surinam-Creole patient (patient A), a G deletion on position cDNA 546/547 in exon 3 led to a frameshift and the introduction of a premature termination codon. In a Dutch patient (patient B), a C-->T transition at position 496 in exon 3 also led to a premature termination codon. Patient A was homozygous for the mutation, whereas patient B was compound heterozygous, a C-->T transition also being found in exon 6 at position 1204. The two new mutations were confirmed by restriction analysis with the restriction enzymes FokI and MaeI, respectively.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cholestanetriol 26-Monooxygenase
  • Cytochrome P-450 Enzyme System / genetics*
  • Exons
  • Female
  • Humans
  • Middle Aged
  • Mutagenesis
  • Polymorphism, Single-Stranded Conformational
  • Steroid Hydroxylases / genetics*
  • Xanthomatosis, Cerebrotendinous / genetics*


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