title: Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder.
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.
authors.affiliation: The Burnham Institute, 10901 N. Torrey Pines Road, La Jolla, California 92037, USA.
authors.forename: Xiaohua
authors.initials: X
authors.lastname: Wu
authors.forename: Richard A
authors.initials: RA
authors.lastname: Steet
authors.forename: Ognian
authors.initials: O
authors.lastname: Bohorov
authors.forename: Jaap
authors.initials: J
authors.lastname: Bakker
authors.forename: John
authors.initials: J
authors.lastname: Newell
authors.forename: Monty
authors.initials: M
authors.lastname: Krieger
authors.forename: Leo
authors.initials: L
authors.lastname: Spaapen
authors.forename: Stuart
authors.initials: S
authors.lastname: Kornfeld
authors.forename: Hudson H
authors.initials: HH
authors.lastname: Freeze
mesh_terms: D001483:Base Sequence; D002239:Carbohydrate Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism; D002352:Carrier Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D018076:DNA, Complementary / Q000235:genetics; D005260:Female; D006031:Glycosylation; D006056:Golgi Apparatus / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation
chemical_list: D002352:Carrier Proteins; D018076:DNA, Complementary