PhenomeGene — Human Disease Gene Website SeriesMOGS

Publications

Sadat MA, et al. Glycosylation, hypogammaglobulinemia, and resistance to viral infections.N Engl J Med. 2014 Apr 24;370(17):1615-1625. PMID: 24716661.

Li M, et al. Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb. J Hum Genet. 2019 Mar;64(3):265-268. PMID: 30587846.

Lo Barco T, et al. Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient.Am J Med Genet A. 2021 Jan;185(1):219-222. PMID: 33058492.

Anzai R, et al. Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction.Brain Dev. 2021 Mar;43(3):402-410. PMID: 33261925.

Shimada S, et al. Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.J Med Genet. 2022 Jul 5:jmedgenet-2021-108177. PMID: 35790351.

Beimdiek J, et al. Serum N-glycomics of a novel CDG-IIb patient reveals aberrant IgG glycosylation. Glycobiology. 2022 Apr 21;32(5):380-390. PMID: 35137040.

Teutonico F, et al. Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literature. Neurogenetics. 2024 Jul;25(3):281-286. PMID: 38498292.

Zou L, et al. Identification and characterization of a prokaryotic Mannosyl-oligosaccharide Glucosidase (MOGS) and establishment of a functional complementation assay for MOGS activity. Biochem Biophys Res Commun. 2025 Sep 8;778:152331. PMID: 40674822.

Shwetabh et al. Congenital disorder of glycosylation type IIb in an infant with developmental and epileptic encephalopathy.BMJ Case Rep. 2025 Nov 4;18(11):e268902. PMID: 41192964.