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

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

Research output: Contribution to journalArticlepeer-review

268 Scopus citations


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.

Original languageEnglish
Pages (from-to)518-523
Number of pages6
JournalNature medicine
Issue number5
StatePublished - May 2004


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