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. © 2013, Sociedade Brasileira de Genética. Printed in Brazil.
CITATION STYLE
Villela, D., Kimura, L., Schlesinger, D., Gonçalves, A., Pearson, P. L., Suemoto, C. K., … Rosenberg, C. (2013). Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene. Genetics and Molecular Biology, 36(4), 498–501. https://doi.org/10.1590/S1415-47572013000400006
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