Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2004 May;10(5):518-23.
doi: 10.1038/nm1041. Epub 2004 Apr 25.

Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder

Xiaohua Wu  1 , Richard A Steet, Ognian Bohorov, Jaap Bakker, John Newell, Monty Krieger, Leo Spaapen, Stuart Kornfeld, Hudson H Freeze
Affiliations
Case Reports

Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder

Xiaohua Wu et al. Nat Med. 2004 May.

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.

PubMed Disclaimer

Comment in

  • A COG in the sugar machine.
    Marquardt T. Marquardt T. Nat Med. 2004 May;10(5):457-8. doi: 10.1038/nm0504-457. Nat Med. 2004. PMID: 15122242 No abstract available.

Publication types