Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene

• Main Authors: Darine Villela, Lilian Kimura, David Schlesinger, Amanda Gonçalves, Peter L. Pearson, Claudia K. Suemoto, Carlos Pasqualucci, Ana Cristina Krepischi, Lea T. Grinbergand, Carla Rosenberg
• Format: Article
• Language: English
• Published: Sociedade Brasileira de Genética 2013-01-01
• Series: Genetics and Molecular Biology
• Subjects: Argyrophilic grain disease; copy number variations; CNVs; array-CGH; CTNS
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000400006&lng=en&tlng=en

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.