COG1-congenital disorders of glycosylation: Milder presentation and review

Clin Genet. 2021 Sep;100(3):318-323. doi: 10.1111/cge.13980. Epub 2021 May 13.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adaptor Proteins, Vesicular Transport / genetics
  • Congenital Disorders of Glycosylation / genetics*
  • Congenital Disorders of Glycosylation / pathology
  • Congenital Disorders of Glycosylation / physiopathology*
  • Exome Sequencing
  • Frameshift Mutation
  • Glycosylation
  • Humans
  • Infant, Newborn
  • Male

Substances

  • Adaptor Proteins, Vesicular Transport
  • COG1 protein, human