Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder
Author: ["Xiaohua Wu","Richard A Steet","Ognian Bohorov","Jaap Bakker","John Newell","Monty Krieger","Leo Spaapen","Stuart Kornfeld","Hudson H Freeze"]
Publication: Nature Medicine
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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.
Cite this article
Wu, X., Steet, R., Bohorov, O. et al. Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. Nat Med 10, 518–523 (2004). https://doi.org/10.1038/nm1041
