Congenital Disorders of Glycosylation

Gene: COG2

Red List (low evidence)

PMID: 24784932;
- 1x patient with severe acquired microcephaly, psychomotor retardation, seizures, liver dysfunction, hypocupremia, and hypoceruloplasminemia
- Analysis of his serum glycoproteins revealed defects in both sialylation and galactosylation of glycan termini
- de novo frameshift mutation [c.701dup (p.Tyr234*)] and a maternal missense mutation [c.1900T > G (p.Trp634Gly)

Created: 22 Jul 2020, 6:52 a.m. | Last Modified: 22 Jul 2020, 6:52 a.m.

Panel Version: 0.131

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIq (MIM# 617395)

Publications

• 24784932