DPM2-CDG: A Muscular Dystrophy-Dystroglycanopathy Syndrome with Severe Epilepsy (Articolo in rivista)

Type
Label
  • DPM2-CDG: A Muscular Dystrophy-Dystroglycanopathy Syndrome with Severe Epilepsy (Articolo in rivista) (literal)
Anno
  • 2012-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1002/ana.23632 (literal)
Alternative label
  • R.Barone, Ch.Aiello, V.Race, E.Morava, F.Foulquier, M.Riemersma, Ch.Passarelli, D.Concolino, M.Carella, F.Santorelli, W.Vleugels, E.Mercuri, D.Garozzo, L.Sturiale, S.Messina, J.Jaeken, A.Fiumara, R.A.Wevers, E.Bertini, G.Matthijs, D. J.Lefeber (2012)
    DPM2-CDG: A Muscular Dystrophy-Dystroglycanopathy Syndrome with Severe Epilepsy
    in Annals of neurology
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • R.Barone, Ch.Aiello, V.Race, E.Morava, F.Foulquier, M.Riemersma, Ch.Passarelli, D.Concolino, M.Carella, F.Santorelli, W.Vleugels, E.Mercuri, D.Garozzo, L.Sturiale, S.Messina, J.Jaeken, A.Fiumara, R.A.Wevers, E.Bertini, G.Matthijs, D. J.Lefeber (literal)
Pagina inizio
  • 550 (literal)
Pagina fine
  • 558 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url
  • http://onlinelibrary.wiley.com/doi/10.1002/ana.23632/full (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 72 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
  • 9 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 4 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1Pediatric Neurology, Department of Pediatrics, University of Catania, Catania, Italy 2Laboratory of Molecular Medicine, Bambino Gesù Children's Research Hospital, Rome, Italy 3Center for Human Genetics, University of Leuven, Leuven, Belgium 4Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands 5Structural and Functional Glycobiology Unit, UMR/CNRS 8576, IFR147, Lille University of Science and Technology, Villeneuve-d'Ascq, France 6Department of Neurology, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands 7Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands 8Department of Pediatrics, University \"Magna Graecia\" of Catanzaro, Catanzaro, Italy 9Casa Sollievo della Sofferenza, Hospital, IRCCS, San Giovanni Rotondo, Italy 10Stella Maris Institute, IRCCS, Pisa, Italy 11Department of Pediatric Neurology, Catholic University, Rome, Italy 12Institute of Chemistry and Technology of Polymers, CNR, Catania, Italy 13Center for Metabolic Diseases, Department of Pediatrics, University Hospital, Leuven, Belgium 14Laboratory of Genetic, Endocrine, and Metabolic Disease, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands (literal)
Titolo
  • DPM2-CDG: A Muscular Dystrophy-Dystroglycanopathy Syndrome with Severe Epilepsy (literal)
Abstract
  • Objective: Congenital disorders of glycosylation (CDG) are a group of metabolic diseases due to defects in protein and lipid glycosylation. We searched for the primary defect in 3 children from 2 families with a severe neurological phenotype, including profound developmental delay, intractable epilepsy, progressive microcephaly, severe hypotonia with elevated blood creatine kinase levels, and early fatal outcome. There was clinical evidence of a muscular dystrophydystroglycanopathy syndrome, supported by deficient O-mannosylation by muscle immunohistochemistry. Methods: Biochemical and molecular methods were combined to pinpoint the defect in the glycosylation pathway in the endoplasmic reticulum. Results: Metabolic investigations revealed CDG-I, pointing to a defect in protein N-glycosylation in the endoplasmic reticulum. Analysis of lipid-linked oligosaccharides in fibroblasts showed accumulation of Dol-PP-GlcNAc(2)-Man(5). DNA analysis revealed mutations in DPM2, 1 of the subunits of the dolichol-phosphate-mannose (DPM) synthase; the patient in the first family is compound heterozygous for 2 mutations (c.68A>G, predicting a missense mutation p.Y23C and c.4-1G>C, a splice mutation), whereas the patients in the second family are homozygous for the same missense mutation (c.68A>G, p.Y23C). Interpretation: We describe a new CDG, due to a deficiency of DPM2. Hence, mutations have now been described in the genes for the 3 subunits of DPM: DPM1, DPM2, and DPM3, whereby DPM2-CDG links the congenital disorders of glycosylation to the congenital muscular dystrophies. (literal)
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