Wuerde, A. E. and Reunert, J. and Rust, S. and Hertzberg, C. and Haverkaemper, S. and Nuernberg, G. and Nuernberg, P. and Lehle, L. and Rossi, R. and Marquardt, T. (2012) Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): Extending the clinical and molecular spectrum of a rare disease. MOLECULAR GENETICS AND METABOLISM, 105 (4). pp. 634-641. ISSN 1096-7192, 1096-7206
Full text not available from this repository. (Request a copy)Abstract
Congenital disorders of glycosylation (CDG) are caused by enzymatic defects of the formation or processing of lipid-linked oligosaccharides and glycoproteins. Since the majority of proteins is glycosylated, a defect in a singular CDG enzyme leads to a multisytemic disease with secondary malfunction of thousands of proteins. CDG-Ij (DPAGT1-CDG) is caused by a defect of the human DPAGT1 (UDP-GlcNAc: Dolichol Phosphate N-Acetylglucosamine-1-Phosphotransferase), catalyzing the first step of N-linked glycosylation. So far the clinical phenotype of only one CDG-Ij patient has been described. The patient showed severe muscular hypotonia, intractable seizures, developmental delay, mental retardation, microcephaly and exotropia. Molecular studies of this patient revealed the heterozygous mutation c.660A>G (Y170C; paternal) in combination with an uncharacterized splicing defect (maternal). Two further mutations, c.890A>T (I297F) and c.162-8 G>A as a splicing defect were detected when analyzing DPAGT1 in two affected siblings of a second family. We report two new patients with the novel homozygous mutation, c341 C>G (A114G). causing a severe clinical phenotype, characterized by hyperexcitability, intractable seizures, bilateral cataracts, progressive microcephaly and muscular hypotonia. Both our patients died within their first year of life. With the discovery of this novel mutation and a detailed clinical description we extend the clinical features of CDC-Ij in order to improve early detection of this disease. (C) 2012 Elsevier Inc. All rights reserved.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | GLCNAC-1-P TRANSFERASE; LINKAGE ANALYSIS; MEMBRANE-PROTEINS; ESCHERICHIA-COLI; GENE; DEFICIENCY; TOOL; SEQUENCES; YEAST; MUTATION; Congenital disorder of glycosylation; CDG; CDG-Ij; DPAGT1; hypoglycosylation; Magnesium-dependency |
| Subjects: | 500 Science > 580 Botanical sciences |
| Divisions: | Biology, Preclinical Medicine > Institut für Pflanzenwissenschaften > Lehrstuhl für Zellbiologie und Pflanzenphysiologie (Prof. Dr. Klaus Grasser) |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 15 May 2020 10:04 |
| Last Modified: | 15 May 2020 10:04 |
| URI: | https://pred.uni-regensburg.de/id/eprint/19002 |
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