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Description
| - Congenital Disorders of Glycosylation (CDG) form a group of metabolic disorders caused by deficient glycosylation of proteins and/or lipids. Isoelectric focusing (IEF) of serum transferrin is the most common screening method to detect abnormalities of protein N-glycosylation. On basis of the isofocusing profile, patients can be grouped in CDG type I or CDG type II. Secondary causes, such as the presence of a transferrin protein polymorphism can complicate interpretation and must be excluded before time-consuming diagnostics is initiated. Several protein variants of transferrin are known that result in a shift in pI and thereby result in double bands in IEF. Incubation of the plasma sample with neuraminidase can indicate the presence of a protein polymorphism by showing double bands at the position of asialotransferrin. Here, we present two cases with a novel protein polymorphism, resulting in a single transferrin isoform after neuraminidase digestion. Mass spectrometric analysis of immunopurified transferrin showed the presence of a non-glycosylated peptide, corresponding to the N-glycan consensus sequence of glycopeptide 2 in case 1 with the heterozygous p.Asn630Thr mutation and of glycopeptide 1 in case 2 with a heterozygous p.Asn432His mutation. Our results show the importance of mass spectrometry in the diagnostic track of CDG type I patients.
- Congenital Disorders of Glycosylation (CDG) form a group of metabolic disorders caused by deficient glycosylation of proteins and/or lipids. Isoelectric focusing (IEF) of serum transferrin is the most common screening method to detect abnormalities of protein N-glycosylation. On basis of the isofocusing profile, patients can be grouped in CDG type I or CDG type II. Secondary causes, such as the presence of a transferrin protein polymorphism can complicate interpretation and must be excluded before time-consuming diagnostics is initiated. Several protein variants of transferrin are known that result in a shift in pI and thereby result in double bands in IEF. Incubation of the plasma sample with neuraminidase can indicate the presence of a protein polymorphism by showing double bands at the position of asialotransferrin. Here, we present two cases with a novel protein polymorphism, resulting in a single transferrin isoform after neuraminidase digestion. Mass spectrometric analysis of immunopurified transferrin showed the presence of a non-glycosylated peptide, corresponding to the N-glycan consensus sequence of glycopeptide 2 in case 1 with the heterozygous p.Asn630Thr mutation and of glycopeptide 1 in case 2 with a heterozygous p.Asn432His mutation. Our results show the importance of mass spectrometry in the diagnostic track of CDG type I patients. (en)
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Title
| - Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I
- Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I (en)
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skos:prefLabel
| - Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I
- Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I (en)
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skos:notation
| - RIV/00064165:_____/11:10071!RIV12-MZ0-00064165
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http://linked.open...avai/predkladatel
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
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http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/00064165:_____/11:10071
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - : CHROMATOGRAPHY-MASS-SPECTROMETRY; DEFICIENT GLYCOPROTEIN SYNDROME; LIQUID-CHROMATOGRAPHY; VARIANTS; PROTEINS; CDG (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
| - Journal of Inherited Metabolic Disease
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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http://linked.open...iv/tvurceVysledku
| - Zeman, Jiří
- Veselá, Kateřina
- Guillard, Mailys
- Hansíková, Hana
- Janssen, Alice
- Kadoya, Machiko
- Lefeber, Dirk J
- Morava, Eva
- Ondrušková, Nina
- Van den Heuvel, LPWJ
- Wada, Yoshinao
- Wevers, Ron A
- Yuasa, Isao
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http://linked.open...ain/vavai/riv/wos
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http://linked.open...n/vavai/riv/zamer
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issn
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number of pages
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is http://linked.open...avai/riv/vysledek
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