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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.

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