title: A new mutation in COG7 extends the spectrum of COG subunit deficiencies.
abstract: We describe a patient homozygous for a novel mutation in COG7, coding for one of the subunits of the Conserved Oligomeric Golgi complex, involved in retrograde vesicular trafficking. His brother showed a similar clinical syndrome and glycosylation defect but no DNA could be obtained from this patient. This mutation, c.170-7A > G, activates a cryptic splice acceptor and leads to the insertion of 2 amino acids at protein level (p.56-57insAT). The insertion disturbs the structure and function of the Conserved Oligomeric Golgi complex. In comparison to the previously described patients with a different COG7 mutation, intrauterine growth retardation and dysmorphic features were absent and there was a longer survival.
authors: Department of Paediatrics, University Hospitals Leuven, Leuven BE-3000, Belgium.
authors: Renate
authors: R
authors: Zeevaert
authors: François
authors: F
authors: Foulquier
authors: David
authors: D
authors: Cheillan
authors: Isabelle
authors: I
authors: Cloix
authors: Nathalie
authors: N
authors: Guffon
authors: Luisella
authors: L
authors: Sturiale
authors: Domenico
authors: D
authors: Garozzo
authors: Gert
authors: G
authors: Matthijs
authors: Jaak
authors: J
authors: Jaeken
mesh_terms: D033942:Adaptor Proteins, Vesicular Transport / Q000235:genetics*; D017668:Age of Onset; D020126:Brefeldin A / Q000494:pharmacology; D002478:Cells, Cultured; D002540:Cerebral Cortex / Q000473:pathology; D003241:Consanguinity; D004252:DNA Mutational Analysis; D018076:DNA, Complementary; D005091:Exons; D005183:Failure to Thrive; D017809:Fatal Outcome; D005334:Fever; D005347:Fibroblasts / Q000187:drug effects; D006031:Glycosylation; D006056:Golgi Apparatus / Q000378:metabolism / Q000502:physiology; D006720:Homozygote; D006801:Humans; D007223:Infant; D007438:Introns; D007525:Isoelectric Focusing; D008297:Male; D009154:Mutation; D021122:Protein Subunits / Q000235:genetics*; D011500:Protein Synthesis Inhibitors / Q000494:pharmacology; D021381:Protein Transport; D017422:Sequence Analysis, DNA; D014168:Transferrin / Q000378:metabolism
chemical_list: D033942:Adaptor Proteins, Vesicular Transport; C512294:COG7 protein, human; D018076:DNA, Complementary; D021122:Protein Subunits; D011500:Protein Synthesis Inhibitors; D014168:Transferrin; D020126:Brefeldin A