Abstract
The conserved oligomeric Golgi (COG) complex is an eight subunit protein involved in the retrograde transport of Golgi components. It affects the localization of several Golgi glycosyltransferases and hence is involved in N- and O-glycosylation. Genetic defects in this complex belong to the rapidly expanding family of congenital disorders of glycosylation (CDG). Patients have been reported with defects of subunit 1 (CDG1-CDG), subunit 4 (CDG4-CDG), subunit 5 (CDG5-CDG), subunit 6 (CDG6-CDG), subunit 7 (CDG7-CDG), and subunit 8 (CDG8-CDG). This paper is on the second reported patient with COG5-CDG. She showed a mild neurohepatic disease with central as well as peripheral neurological involvement while in the first reported patient (with a different mutation) only mild central neurological involvement was reported.
Competing interests: None declared.
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Abbreviations
- CDG:
-
Congenital disorder(s) of glycosylation
- COG:
-
Conserved oligomeric GoLgi complex
- IEF:
-
Isoelectrofocusing
References
Foulquier F (2009) COG defects, birth and rise! Biochim Biophys Acta 1792:896–902
Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7:537–551
Guillard M, Dimopovlov A, Fischer B et al (2009) Vacuolar H+−AT Pase meets glycosylation in patients with cutis laxa. Biochim Biophys Acta 1792: 903–914
Jaeken J, van Eijk HG, van der Heul C et al (1984) Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized syndrome. Clin Chim Acta 144:245–247
Jacken J, Matthys G (2007) Congenital disorders of glycosylation: a rapidly expanding disease family. Ann Rev Genomics Atom Genet 8:261–278
Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: time for a change! Biochim Biophys Acta 1792:825–826
Lees AJ, Yip CK, Walz T, Hughson FM (2010) Molecular organization of the COG vesicle tethering complex. Nat Struct Mol Biol 17:1292–1297
Lübbehusen J, Thiel C, Rind N et al (2010) Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation. Hum Mol Genet 19:3623–3633
Paesold-Burda P, Maag C, Troxler H et al (2009) Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation. Hum Mol Genet 18:4350–4356
Reynders E, Foulquier F, Leão TE et al (2009) Golgi function and dysfunction in the first COG4-deficient CDG type II patient. Hum Mol Genet 18:3244–3256
Reynders E, Foulquier F, Annaert W, Matthijs G (2011) How Golgi glycosylation meets and needs trafficking: the case of the COG complex. Glycobiology 21:853–863
Sturiale L, Barone R, Fiumara A et al (2005) Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. Glycobiology 15:1268–1276
Wopereis S, Grünewald S, Morava E et al (2003) Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis. Clin Chem 49:1839–1845
Zeevaert R, Foulquier F, Jaeken J, Matthijs G (2008) Deficiencies in subunits of the conserved oligomeric Golgi (COG) complex define a novel group of congenital disorders of glycosylation. Mol Genet Metab 93:261–278
Zeevaert R, Foulquier F, Dimitrov B et al (2009) Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex subunit 1. Hum Mol Genet 18:517–524
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Communicated by: Eva Morava.
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Fung, C.W. et al. (2011). COG5-CDG with a Mild Neurohepatic Presentation. In: JIMD Reports - Case and Research Reports, 2011/3. JIMD Reports, vol 3. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2011_61
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DOI: https://doi.org/10.1007/8904_2011_61
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