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A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome

2008-07-15Journal article Open access
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dc.contributor.authorBalreira, A.
dc.contributor.authorGaspar, P.
dc.contributor.authorCaiola, D.
dc.contributor.authorChaves, J.
dc.contributor.authorBeirão, I.
dc.contributor.authorLima, J.
dc.contributor.authorAzevedo, J.
dc.contributor.authorMiranda, M.
dc.date.accessioned2012-01-03T12:00:06Z
dc.date.available2012-01-03T12:00:06Z
dc.date.issued2008-07-15
dc.description.abstractAbstract The main clinical features of two siblings from a consanguineous marriage were progressive myoclonic epilepsy without intellectual impairment and a nephrotic syndrome with a strong accumulation of C1q in capillary loops and mesangium of kidney. The biochemical analysis of one of the patients revealed a normal beta-glucocerebrosidase activity in leukocytes, but a severe enzymatic deficiency in cultured skin fibroblasts. This deficiency suggested a defect in the intracellular sorting pathway of this enzyme. The sequence analysis of the gene encoding LIMP-2 (SCARB2), the sorting receptor for beta-glucocerebrosidase, confirmed this hypothesis. A homozygous nonsense mutation in codon 178 of SCARB2 was found in the patient, whereas her healthy parents were heterozygous for the mutation. Besides lacking immunodetectable LIMP-2, patient fibroblasts also had decreased amounts of beta-glucocerebrosidase, which was mainly located in the endoplasmic reticulum, as assessed by its sensitivity to Endo H. This is the first report of a mutation in the SCARB2 gene associated with a human disease, which, contrary to earlier proposals, shares no features with Charcot-Marie-Tooth disease both at the clinical and neurophysiological levels.por
dc.description.sponsorshipProjeto financiado pela Fundação para a Ciência e Tecnologia(SFRH/BD/19496/2004 to A.B.)por
dc.identifier.citationHum Mol Genet. 2008 Jul 15;17(14):2238-43por
dc.identifier.issn0964-6906
dc.identifier.urihttp://hdl.handle.net/10400.16/885
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherOxford University Press,por
dc.relation.publisherversionhttp://hmg.oxfordjournals.org/content/17/14/2238.full.pdf+htmlpor
dc.titleA nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndromepor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceEnglandpor
oaire.citation.endPage2243por
oaire.citation.issue17(14)por
oaire.citation.startPage2238por
oaire.citation.titleHuman molecular geneticspor
rcaap.rightsopenAccesspor
rcaap.typearticlepor

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