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- Title
COG5-CDG: expanding the clinical spectrum.
- Authors
Rymen, Daisy; Keldermans, Liesbeth; Race, Valérie; Régal, Luc; Deconinck, Nicolas; Dionisi-Vici, Carlo; Fung, Cheuk-wing; Sturiale, Luisa; Rosnoblet, Claire; Foulquier, François; Matthijs, Gert; Jaeken, Jaak
- 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.
- Subjects
GOLGI apparatus; GLYCOSYLTRANSFERASE genetics; GLYCOSYLATION; CONGENITAL disorders; GENETIC mutation; FIBROBLASTS; IMMUNOBLOTTING; DISEASES; THERAPEUTICS
- Publication
Orphanet Journal of Rare Diseases, 2012, Vol 7, Issue 1, p1
- ISSN
1750-1172
- Publication type
Article
- DOI
10.1186/1750-1172-7-94