A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene

J Investig Med High Impact Case Rep. 2023 Jan-Dec:11:23247096231168109. doi: 10.1177/23247096231168109.

Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare hereditary disease described by a mutation in the CYP27A1 gene, which encodes the sterol 27-hydroxylase enzyme involved in the synthesis of bile acid. Accumulation of cholesterol and its metabolite, cholestanol, in multiple body organs causes the symptoms of this disease. In addition, a mutation in the COG8 gene, which encodes a subunit of conserved oligomeric Golgi (COG) complex, causes another rare disorder attributed to type IIh of congenital disorder of glycosylation (CDG). We described a rare case of CTX disorder associated with a mutation on COG8 gene, which presented by unusual symptoms.

Keywords: CDG type IIh; COG8 gene; CTX disorder; CYP27A1 gene.

Publication types

  • Case Reports

MeSH terms

  • Cholestanetriol 26-Monooxygenase / genetics
  • Cholestanol / metabolism
  • Cholesterol
  • Humans
  • Mutation
  • Xanthomatosis, Cerebrotendinous* / complications
  • Xanthomatosis, Cerebrotendinous* / diagnosis
  • Xanthomatosis, Cerebrotendinous* / genetics

Substances

  • Cholestanetriol 26-Monooxygenase
  • Cholestanol
  • Cholesterol