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Statements

Subject Item
n2:RIV%2F00064165%3A_____%2F11%3A10071%21RIV12-MZ0-00064165
rdf:type
n11:Vysledek skos:Concept
rdfs:seeAlso
http://dx.doi.org/10.1007/s10545-011-9311-y
dcterms: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.
dcterms: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
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
skos:notation
RIV/00064165:_____/11:10071!RIV12-MZ0-00064165
n11:predkladatel
n12:ico%3A00064165
n3:aktivita
n15:Z n15:I
n3:aktivity
I, Z(MSM0021620806)
n3:cisloPeriodika
4
n3:dodaniDat
n10:2012
n3:domaciTvurceVysledku
n9:6270875 n9:4383176 n9:5315263 n9:9177981
n3:druhVysledku
n19:J
n3:duvernostUdaju
n17:S
n3:entitaPredkladatele
n16:predkladatel
n3:idSjednocenehoVysledku
235782
n3:idVysledku
RIV/00064165:_____/11:10071
n3:jazykVysledku
n8:eng
n3:klicovaSlova
: CHROMATOGRAPHY-MASS-SPECTROMETRY; DEFICIENT GLYCOPROTEIN SYNDROME; LIQUID-CHROMATOGRAPHY; VARIANTS; PROTEINS; CDG
n3:klicoveSlovo
n13:LIQUID-CHROMATOGRAPHY n13:CDG n13:DEFICIENT%20GLYCOPROTEIN%20SYNDROME n13:PROTEINS n13:VARIANTS n13:%3A%20CHROMATOGRAPHY-MASS-SPECTROMETRY
n3:kodStatuVydavatele
NL - Nizozemsko
n3:kontrolniKodProRIV
[D802B8D5B27D]
n3:nazevZdroje
Journal of Inherited Metabolic Disease
n3:obor
n5:FG
n3:pocetDomacichTvurcuVysledku
4
n3:pocetTvurcuVysledku
13
n3:rokUplatneniVysledku
n10:2011
n3:svazekPeriodika
34
n3:tvurceVysledku
Veselá, Kateřina Wevers, Ron A Hansíková, Hana Van den Heuvel, LPWJ Zeman, Jiří Morava, Eva Ondrušková, Nina Guillard, Mailys Wada, Yoshinao Janssen, Alice Lefeber, Dirk J Kadoya, Machiko Yuasa, Isao
n3:wos
000292829800008
n3:zamer
n14:MSM0021620806
s:issn
0141-8955
s:numberOfPages
6