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Article

COG8 deficiency causes new congenital disorder of glycosylation type IIh.

Human molecular genetics - 1 Apr 2007

Kranz Christian, Ng Bobby G, Sun Liangwu, Sharma Vandana, Eklund Erik A, Miura Yoshiaki, Ungar Daniel, Lupashin Vladimir, Winkel R Dennis, Cipollo John F, Costello Catherine E, Loh Eva, Hong Wanjin, Freeze Hudson H

Abstract excerpt

We describe a new Type II congenital disorder of glycosylation (CDG-II) caused by mutations in the conserved oligomeric Golgi (COG) complex gene, COG8. The patient has severe psychomotor retardation, seizures, failure to thrive and intolerance to wheat and dairy products. Analysis of serum transferrin and total serum N-glycans showed normal addition of one sialic acid, but severe deficiency in subsequent...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17331980
DOI: 10.1093/hmg/ddm028

Genes

COG8
COG7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

COG8 deficiency causes new congenital disorder of glycosylation type IIh.PMID 17331980Read ↗

Identification of the first COG-CDG patient of Indian origin.Semantic proximity Read ↗

Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation.Semantic proximity Read ↗

Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.Semantic proximity Read ↗

Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.Semantic proximity Read ↗

Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.Semantic proximity Read ↗

COG5-CDG: expanding the clinical spectrum.Semantic proximity Read ↗

Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder.Semantic proximity Read ↗

Deficiency of the Cog8 subunit in normal and CDG-derived cells impairs the assembly of the COG and Golgi SNARE complexes.Semantic proximity Read ↗

More than just sugars: Conserved oligomeric Golgi complex deficiency causes glycosylation-independent cellular defects.Semantic proximity Read ↗

Golgi function and dysfunction in the first COG4-deficient CDG type II patientSemantic proximity Read ↗

A splice-altering intronic variant in two multiplex families refines autosomal recessive COG4-related congenital disorder of glycosylation.Semantic proximity Read ↗

Congenital disorders of glycosylation.Semantic proximity Read ↗

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