Molecular and clinical characterization of a Moroccan Cog7 deficient patient

Bobby G Ng, Christian Kranz, E E O Hagebeuk, M Duran, N G G M Abeling, B Wuyts, Daniel Ungar, Vladimir Lupashin, C M Hartdorff, B T Poll-The, Hudson H Freeze

Research output: Contribution to journalArticlepeer-review


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.
Original languageEnglish
Pages (from-to)201-4
Number of pages4
JournalMolecular genetics and metabolism
Issue number2
Publication statusPublished - 2007


  • Adaptor Proteins, Vesicular Transport
  • Biological Transport
  • Brefeldin A
  • Consanguinity
  • Endoplasmic Reticulum
  • Female
  • Fibroblasts
  • Humans
  • Kinetics
  • Morocco
  • N-Acetylneuraminic Acid
  • Polysaccharides

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