Mutation of the COG Complex Subunit Gene COG7 Causes a Lethal Congenital Disorder

Nat Med. 2004 May;10(5):518-23. doi: 10.1038/nm1041. Epub 2004 Apr 25.

Abstract

The congenital disorders of glycosylation (CDG) are characterized by defects in N-linked glycan biosynthesis that result from mutations in genes encoding proteins directly involved in the glycosylation pathway. Here we describe two siblings with a fatal form of CDG caused by a mutation in the gene encoding COG-7, a subunit of the conserved oligomeric Golgi (COG) complex. The mutation impairs integrity of the COG complex and alters Golgi trafficking, resulting in disruption of multiple glycosylation pathways. These cases represent a new type of CDG in which the molecular defect lies in a protein that affects the trafficking and function of the glycosylation machinery.

Publication types

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

MeSH terms

  • Base Sequence
  • Carbohydrate Metabolism, Inborn Errors / genetics*
  • Carbohydrate Metabolism, Inborn Errors / metabolism
  • Carrier Proteins / chemistry
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • DNA, Complementary / genetics
  • Female
  • Glycosylation
  • Golgi Apparatus / metabolism
  • Homozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation*

Substances

  • Carrier Proteins
  • DNA, Complementary