Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.16/885
Título: A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome
Autor: Balreira, A.
Gaspar, P.
Caiola, D.
Chaves, J.
Beirão, I.
Lima, J.
Azevedo, J.
Miranda, M.
Data: 15-Jul-2008
Editora: Oxford University Press,
Citação: Hum Mol Genet. 2008 Jul 15;17(14):2238-43
Resumo: 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.
Peer review: yes
URI: http://hdl.handle.net/10400.16/885
ISSN: 0964-6906
Versão do Editor: http://hmg.oxfordjournals.org/content/17/14/2238.full.pdf+html
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