Title: MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If
Authors: Schenk, B ×
Imbach, T
Frank, C G
Grubenmann, C E
Raymond, G V
Hurvitz, H
Korn-Lubetzki, I
Revel-Vik, S
Raas-Rotschild, A
Luder, A S
Jaeken, Jacques
Berger, E G
Matthijs, Gert
Hennet, T
Aebi, M #
Issue Date: Dec-2001
Series Title: Journal of Clinical Investigation vol:108 issue:11 pages:1687-95
Abstract: Deficiencies in the pathway of N-glycan biosynthesis lead to severe multisystem diseases, known as congenital disorders of glycosylation (CDG). The clinical appearance of CDG is variable, and different types can be distinguished according to the gene that is altered. In this report, we describe the molecular basis of a novel type of the disease in three unrelated patients diagnosed with CDG-I. Serum transferrin was hypoglycosylated and patients' fibroblasts accumulated incomplete lipid-linked oligosaccharide precursors for N-linked protein glycosylation. Transfer of incomplete oligosaccharides to protein was detected. Sequence analysis of the Lec35/MPDU1 gene, known to be involved in the use of dolichylphosphomannose and dolichylphosphoglucose, revealed mutations in all three patients. Retroviral-based expression of the normal Lec35 cDNA in primary fibroblasts of patients restored normal lipid-linked oligosaccharide biosynthesis. We concluded that mutations in the Lec35/MPDU1 gene cause CDG. This novel type was termed CDG-If.
ISSN: 0021-9738
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Section Child - Miscellaneous (-)
Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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