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Article

Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction.

Brain & development - 1 Mar 2021

Anzai Rie, Tsuji Megumi, Yamashita Sumimasa, Wada Yoshinao, Okamoto Nobuhiko, Saitsu Hirotomo, Matsumoto Naomichi, Goto Tomohide

Abstract excerpt

AIM: MOGS mutations cause congenital disorders of glycosylation type IIb (CDG-IIb or GCS1-CDG). The specific manifestations caused by the mutations in this gene remain unknown. We aimed to describe the clinical features of CDG- IIb and the effectiveness of urinary oligosaccharide analysis in the diagnosis of CDG- IIb. METHODS: Patient 1 was analyzed with whole-exome sequencing (WES) to identify the causative gene...

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Identifiers

PMID: 33261925
DOI: 10.1016/j.braindev.2020.10.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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