Molecular and clinical characterization of a Moroccan Cog7 deficient patient.
Mutations in the N-linked glycosylation pathway cause rare autosomal recessive defects known as Congenital Disorders of Glycosylation (CDG). A previously reported mutation in the Conserved Oligomeric Golgi complex gene, COG7, defined a new subtype of CDG in a Tunisian family. The mutation disrupted the hetero-octomeric COG complex and altered both N- and O-linked glycosylation. Here we present clinical and biochemical data from a second family with the same mutation.
Ng
Bobby G
BG
Department of Glycobiology and Carbohydrate Chemistry, Burnham Institute for Medical Research, La Jolla, CA 92037, USA.
Kranz
Christian
C
Hagebeuk
E E O
EE
Duran
M
M
Abeling
N G G M
NG
Wuyts
B
B
Ungar
Daniel
D
Lupashin
Vladimir
V
Hartdorff
C M
CM
Poll-The
B T
BT
Freeze
Hudson H
HH
D033942:Adaptor Proteins, Vesicular Transport / Q000172:deficiency* / Q000235:genetics*; D001692:Biological Transport; D020126:Brefeldin A / Q000494:pharmacology; D003241:Consanguinity; D004721:Endoplasmic Reticulum / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000187:drug effects / Q000378:metabolism; D006801:Humans; D007700:Kinetics; D009018:Morocco / Q000208:ethnology; D019158:N-Acetylneuraminic Acid / Q000378:metabolism; D011134:Polysaccharides / Q000378:metabolism
D033942:Adaptor Proteins, Vesicular Transport; C512294:COG7 protein, human; D011134:Polysaccharides; D020126:Brefeldin A; D019158:N-Acetylneuraminic Acid