Title: A new mutation in COG7 extends the spectrum of COG subunit deficiencies
Authors: Zeevaert, Renate ×
Foulquier, Fran├žois
Cheillan, David
Cloix, Isabelle
Guffon, Nathalie
Sturiale, Luisella
Garozzo, Domenico
Matthijs, Gert
Jaeken, Jacques #
Issue Date: Sep-2009
Series Title: European Journal of Medical Genetics vol:52 issue:5 pages:303-305
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.
ISSN: 1769-7212
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Clinical Genetics Section (-)
Section Child - Miscellaneous (-)
× corresponding author
# (joint) last author

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