COG5-CDG: Expanding the clinical spectrum

Daisy Rymen, Liesbeth Keldermans, Valérie Race, Luc Régal, Nicolas Deconinck, Carlo Dionisi-Vici, Cheuk Wing Fung, Luisa Sturiale, Claire Rosnoblet, François Foulquier, Gert Matthijs, Jaak Jaeken

Research output: Contribution to journalArticle

Abstract

Background: The Conserved Oligomeric Golgi (COG) complex is involved in the retrograde trafficking of Golgi components, thereby affecting the localization of Golgi glycosyltransferases. Deficiency of a COG-subunit leads to defective protein glycosylation, and thus Congenital Disorders of Glycosylation (CDG). Mutations in subunits 1, 4, 5, 6, 7 and 8 have been associated with CDG-II. The first patient with COG5-CDG was recently described (Paesold-Burda et al. Hum Mol Genet 2009; 18:4350-6). Contrary to most other COG-CDG cases, the patient presented a mild/moderate phenotype, i.e. moderate psychomotor retardation with language delay, truncal ataxia and slight hypotonia. Methods. CDG-IIx patients from our database were screened for mutations in COG5. Clinical data were compared. Brefeldin A treatment of fibroblasts and immunoblotting experiments were performed to support the diagnosis. Results and conclusion. We identified five new patients with proven COG5 deficiency. We conclude that the clinical picture is not always as mild as previously described. It rather comprises a broad spectrum with phenotypes ranging from mild to very severe. Interestingly, on a clinical basis some of the patients present a significant overlap with COG7-CDG, a finding which can probably be explained by subunit interactions at the protein level.

Original languageEnglish
Article number94
JournalOrphanet Journal of Rare Diseases
Volume7
Issue number1
DOIs
Publication statusPublished - 2012

Keywords

  • CDG-II
  • COG5
  • Conserved oligomeric golgi complex
  • Glycan analysis
  • Glycosylation
  • Trafficking

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics(clinical)
  • Pharmacology (medical)

Fingerprint Dive into the research topics of 'COG5-CDG: Expanding the clinical spectrum'. Together they form a unique fingerprint.

  • Cite this

    Rymen, D., Keldermans, L., Race, V., Régal, L., Deconinck, N., Dionisi-Vici, C., Fung, C. W., Sturiale, L., Rosnoblet, C., Foulquier, F., Matthijs, G., & Jaeken, J. (2012). COG5-CDG: Expanding the clinical spectrum. Orphanet Journal of Rare Diseases, 7(1), [94]. https://doi.org/10.1186/1750-1172-7-94