Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.

ABSTRACT: Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, due to impaired protein and lipid glycosylation. We identified two patients with defective serum transferrin glycosylation and mutations in the MAGT1 gene. These patients present with a phenotype that is mainly characterized by intellectual and developmental disability. MAGT1 has been described to be a subunit of the oligosaccharyltransferase (OST) complex and more specifically of the STT3B complex. However, it was also claimed that MAGT1 is a magnesium (Mg²⁺) transporter. So far, patients with mutations in MAGT1 were linked to a primary immunodeficiency, characterized by chronic EBV infections attributed to a Mg²⁺ homeostasis defect (XMEN). We compared the clinical and c

SUBMITTER: Blommaert E 

PROVIDER: S-EPMC6525510 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature