Title: COG5-CDG: expanding the clinical spectrum
Authors: Rymen, Daisy
Keldermans, Liesbeth
Race, Valerie
RĂ©gal, Luc
Deconinck, Nicolas
Dionisi-Vici, Carlo
Fung, Cheuk-Wing
Sturiale, Luisa
Rosnoblet, Claire
Foulquier, François
Matthijs, Gert
Jaeken, Jaak # ×
Issue Date: Dec-2012
Publisher: BioMed Central
Series Title: Orphanet Journal of Rare Diseases vol:7 issue:1
Article number: 94
Abstract: 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.
ISSN: 1750-1172
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Molecular Diagnosis
× corresponding author
# (joint) last author

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