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A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome
dc.contributor.author | Balreira, A. | |
dc.contributor.author | Gaspar, P. | |
dc.contributor.author | Caiola, D. | |
dc.contributor.author | Chaves, J. | |
dc.contributor.author | Beirão, I. | |
dc.contributor.author | Lima, J. | |
dc.contributor.author | Azevedo, J. | |
dc.contributor.author | Miranda, M. | |
dc.date.accessioned | 2012-01-03T12:00:06Z | |
dc.date.available | 2012-01-03T12:00:06Z | |
dc.date.issued | 2008-07-15 | |
dc.description.abstract | Abstract 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.sponsorship | Projeto financiado pela Fundação para a Ciência e Tecnologia(SFRH/BD/19496/2004 to A.B.) | por |
dc.identifier.citation | Hum Mol Genet. 2008 Jul 15;17(14):2238-43 | por |
dc.identifier.issn | 0964-6906 | |
dc.identifier.uri | http://hdl.handle.net/10400.16/885 | |
dc.language.iso | eng | por |
dc.peerreviewed | yes | por |
dc.publisher | Oxford University Press, | por |
dc.relation.publisherversion | http://hmg.oxfordjournals.org/content/17/14/2238.full.pdf+html | por |
dc.title | A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome | por |
dc.type | journal article | |
dspace.entity.type | Publication | |
oaire.citation.conferencePlace | England | por |
oaire.citation.endPage | 2243 | por |
oaire.citation.issue | 17(14) | por |
oaire.citation.startPage | 2238 | por |
oaire.citation.title | Human molecular genetics | por |
rcaap.rights | openAccess | por |
rcaap.type | article | por |
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