Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip
| Autor: | Gert Matthijs, Kristen Hanson, Craig R. Adamski, Christian Körner, Georg F. Hoffmann, Nina Rind, Rhonda Scanlon, Neophytos Apeshiotis, Diana Popovici, Charlotte Thiels, Marie Lambert, Robert L. Conway, Christian Thiel, Elizabeth Butler |
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| Rok vydání: | 2012 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Glycosylation Glycoconjugate Oligosaccharides Biology Mannosyltransferases chemistry.chemical_compound Congenital Disorders of Glycosylation N-linked glycosylation Dolichols Genetics medicine Humans Child Strabismus Genetics (clinical) chemistry.chemical_classification Psychomotor learning Heterogeneous group medicine.disease chemistry Child Preschool Immunology Female Identification (biology) Congenital disorder of glycosylation |
| Zdroj: | Human Mutation. 33:485-487 |
| ISSN: | 1059-7794 |
| DOI: | 10.1002/humu.22019 |
| Popis: | Congenital disorders of glycosylation (CDG) comprise a clinically and biochemically heterogeneous group of monogenetic-inherited, multisystemic diseases that affect the biosynthesis of N- and/or O-glycans linked to glycoconjugates. Recently, we identified the first patient with a defect in the cytosolic-orientated GDP-mannose:Man(3-4) GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase (ALG11), who presented an accumulation of shortened dolichol-linked oligosaccharides leading to CDG-Ip (ALG11-CDG). Here we describe an improved metabolic labeling method that allowed the identification of three new CDG-Ip cases that were missed so far in routine diagnostics. Although all CDG-Ip patients carry different mutations in the ALG11 gene, they share a variety of clinical syndromes like an unremarkable prenatal period followed by developmental delay, psychomotor, and mental retardation, strabismus convergens and seizures occurring in the first year of life. |
| Databáze: | OpenAIRE |
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