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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adaptor Proteins, Vesicular Transport / genetics*
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Age of Onset
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Brefeldin A / pharmacology
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Cells, Cultured
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Cerebral Cortex / pathology
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Consanguinity
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DNA Mutational Analysis
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DNA, Complementary
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Exons
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Failure to Thrive
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Fatal Outcome
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Fever
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Fibroblasts / drug effects
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Glycosylation
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Golgi Apparatus / metabolism
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Golgi Apparatus / physiology
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Homozygote
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Humans
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Infant
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Introns
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Isoelectric Focusing
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Male
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Mutation*
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Protein Subunits / genetics*
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Protein Synthesis Inhibitors / pharmacology
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Protein Transport
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Sequence Analysis, DNA
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Transferrin / metabolism
Substances
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Adaptor Proteins, Vesicular Transport
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COG7 protein, human
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DNA, Complementary
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Protein Subunits
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Protein Synthesis Inhibitors
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Transferrin
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Brefeldin A