A new mutation in COG7 extends the spectrum of COG subunit deficiencies.
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.
Zeevaert
Renate
R
Department of Paediatrics, University Hospitals Leuven, Leuven BE-3000, Belgium.
Foulquier
François
F
Cheillan
David
D
Cloix
Isabelle
I
Guffon
Nathalie
N
Sturiale
Luisella
L
Garozzo
Domenico
D
Matthijs
Gert
G
Jaeken
Jaak
J
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
D033942:Adaptor Proteins, Vesicular Transport; C512294:COG7 protein, human; D018076:DNA, Complementary; D021122:Protein Subunits; D011500:Protein Synthesis Inhibitors; D014168:Transferrin; D020126:Brefeldin A