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.

PMID: 37083278

Hamed Ghoshouni, Roham Sarmadian, Rana Irilouzadian

Highlights: This article describes a rare case of cerebrotendinous xanthomatosis (CTX) disorder associated with a mutation on COG8 gene, which presented by unusual symptoms.

Abstract

Background: The CYP27A1 gene, which codes for the sterol 27-hydroxylase enzyme involved in the manufacture of bile acid, is mutated in the uncommon genetic condition known as cerebrotendinous xanthomatosis (CTX). The signs and symptoms of this condition are brought on by the buildup of cholesterol and its metabolite, cholestanol, in numerous body organs. In addition, a rare disorder associated with type IIh of congenital disorder of glycosylation (CDG) is caused by a mutation in the COG8 gene, which encodes a subunit of the conserved oligomeric Golgi (COG) complex.

Objective: This article describes a rare case of CTX disease linked to a COG8 gene mutation that manifested with unusual symptoms.

Keywords: CDG type IIh, COG8 gene, CTX disorder, CYP27A1 gene