Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene
AUTOR(ES)
Villela, Darine, Kimura, Lilian, Schlesinger, David, Gonçalves, Amanda, Pearson, Peter L., Suemoto, Claudia K., Pasqualucci, Carlos, Krepischi, Ana Cristina, Grinbergand, Lea T., Rosenberg, Carla
FONTE
Genet. Mol. Biol.
DATA DE PUBLICAÇÃO
2013
RESUMO
Argyrophilic grain disease (AGD) is a progressive neurodegenerative disease of the human brain that has never been associated to a particular gene locus. In the present study, we report the results of a CNV investigation in 29 individuals whose anatomopathologic investigation of the brain showed AGD. Rare CNVs were identified in six patients (21%), in particular a 40 kb deletion at 17p13.2 encompassing the CTNS gene. Homozygote mutations in CTNS are known to cause cystinosis, a disorder characterized by the intralysosomal accumulation of cystine in all tissues. We present the first CNV results in individuals presenting AGD and a possible candidate gene implicated in the disorder.
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