title: Identification of the first COG-CDG patient of Indian origin.
abstract: Mutations in the Conserved Oligomeric Golgi (COG) complex give rise to type II congenital disorders of glycosylation (CDG). Thus far, mutations have been identified in 6 of the 8 COG subunits. Here we present data identifying a previously reported CDG-IIx case from Singapore as a new COG4 patient with 2 novel mutations leading to p.E233X and p.L773R; with p.E233X being a de novo mutation. As a result, COG4 protein expression was dramatically reduced, while expression of the other subunits remained unaffected. Analysis of serum N-glycans revealed deficiencies in both sialylation and galactosylation. Furthermore, patient fibroblasts have impaired O-glycosylation. Importantly, patient fibroblasts exhibited a delay in Brefeldin A (BFA) induced retrograde transport, a common characteristic seen in COG deficiencies.
authors.affiliation: Sanford I Burnham Medical Research Institute, 10901 N. Torrey Pines Rd., La Jolla, CA 92037, USA.
authors.forename: Bobby G
authors.initials: BG
authors.lastname: Ng
authors.forename: Vandana
authors.initials: V
authors.lastname: Sharma
authors.forename: Liangwu
authors.initials: L
authors.lastname: Sun
authors.forename: Eva
authors.initials: E
authors.lastname: Loh
authors.forename: Wanjin
authors.initials: W
authors.lastname: Hong
authors.forename: Stacey K H
authors.initials: SK
authors.lastname: Tay
authors.forename: Hudson H
authors.initials: HH
authors.lastname: Freeze
mesh_terms: D033942:Adaptor Proteins, Vesicular Transport / Q000235:genetics* / Q000378:metabolism*; D020126:Brefeldin A / Q000494:pharmacology; D018981:Congenital Disorders of Glycosylation / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D005347:Fibroblasts / Q000187:drug effects / Q000378:metabolism; D005816:Genetic Complementation Test; D006056:Golgi Apparatus / Q000378:metabolism / Q000473:pathology; D006801:Humans; D016086:Lentivirus / Q000235:genetics; D009154:Mutation; D011134:Polysaccharides / Q000032:analysis; D011500:Protein Synthesis Inhibitors / Q000494:pharmacology; D021381:Protein Transport / Q000187:drug effects; D012846:Singapore
chemical_list: D033942:Adaptor Proteins, Vesicular Transport; D011134:Polysaccharides; D011500:Protein Synthesis Inhibitors; D020126:Brefeldin A