Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG)

Eur J Med Genet. 2019 Jan;62(1):44-46. doi: 10.1016/j.ejmg.2018.04.017. Epub 2018 Apr 28.

Abstract

COG6-CDG is a rare autosomal recessive disease of congenital disorders of glycosylation (CDG) caused by deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6), which is characterized by growth retardation, developmental disability, microcephaly, liver and gastrointestinal disease, recurrent infections and hypohidrosis/hyperthermia. Only eight mutations causing COG6 deficiencies have been described since the first report in 2010. Here, we report the first Chinese patient with COG6-CDG. Utilizing targeted next generation sequencing and Sanger sequencing, we detected compound heterozygous variants (c.1A > G, p.? and c.388C > T, p.(Gln 130*)) of the COG6 gene, both of which were pathogenic. Our study therefore extended the genotype-phenotype relationship of the COG6 gene.

Keywords: COG6 gene; COG6-CDG; Compound heterozygous variants; Targeted next generation sequencing.

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Vesicular Transport / genetics*
  • Congenital Disorders of Glycosylation / genetics*
  • Congenital Disorders of Glycosylation / pathology
  • Heterozygote
  • Humans
  • Infant
  • Male
  • Mutation
  • Phenotype*

Substances

  • Adaptor Proteins, Vesicular Transport
  • COG6 protein, human