Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2021 Sep;100(3):318-323.
doi: 10.1111/cge.13980. Epub 2021 May 13.

COG1-congenital disorders of glycosylation: Milder presentation and review

Marne Salazar  1 , Noriko Miyake  2 , Sebastián Silva  1   3 , Benjamín Solar  1 , Gabriela M Papazoglu  4 , Carla G Asteggiano  4   5 , Naomichi Matsumoto  2
Affiliations
Review

COG1-congenital disorders of glycosylation: Milder presentation and review

Marne Salazar et al. Clin Genet. 2021 Sep.

Abstract

Congenital disorders of glycosylation (CDG) are a heterogeneous group of genetic defects in glycoprotein and glycolipid glycan synthesis and attachment. A CDG subgroup are defects in the conserved oligomeric Golgi complex encoded by eight genes, COG1-COG8. Pathogenic variants in all genes except the COG3 gene have been reported. COG1-CDG has been reported in five patients. We report a male with neonatal seizures, dysmorphism, hepatitis and a type 2 serum transferrin isoelectrofocusing. Exome sequencing identified a homozygous COG1 variant (NM_018714.3: c.2665dup: p.[Arg889Profs*12]), which has been reported previously in one patient. We review the reported patients.

Keywords: COG1; autosomal recessive inheritance; cardinal features; congenital disorders of glycosylation; serum transferrin isoelectric focusing.

PubMed Disclaimer

References

REFERENCES

    1. Jaeken J. Congenital disorders of glycosylation: a multi-genetic disease family with multiple subcellular locations. J Mother Child. 2020;24(2):14-20.
    1. Climer LK, Hendrix RD, Lupashin VV. Conserved oligomeric Golgi and neuronal vesicular trafficking. Handb Exp Pharmacol. 2018;245:227-247.
    1. Haijes HA, Jaeken J, Foulquier F, van Hasselt PM. Hypothesis: lobe a (COG1-4)-CDG causes a more severe phenotype than lobe B (COG5-8)-CDG. J Med Genet. 2018;55(2):137-142.
    1. Ungar D, Oka T, Vasile E, Krieger M, Hughson FM. Subunit architecture of the conserved oligomeric Golgi complex. Biochim Biophys Acta Gen Sub. 2005;280(38):32729-32735.
    1. D'Souza Z, Taher FS, Lupashin VV. Golgi inCOGnito: from vesicle tethering to human disease. Biochim Biophys Acta Gen Sub. 1864;2020(11):129694.

MeSH terms

Substances

LinkOut - more resources