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

Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSPVILLELA, DarineKIMURA, LilianSCHLESINGER, DavidGONCALVES, AmandaPEARSON, Peter L.SUEMOTO, Claudia K.PASQUALUCCI, CarlosKREPISCHI, Ana CristinaGRINBERG, Lea T.ROSENBERG, Carla2014-04-252014-04-252013GENETICS AND MOLECULAR BIOLOGY, v.36, n.4, p.498-501, 20131415-4757https://observatorio.fm.usp.br/handle/OPI/5070Argyrophilic 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.engopenAccessArgyrophilic grain diseasecopy number variationsCNVsarray-CGHCTNSnephropathic cystinosisonset dementiaaccumulationdeficitschildrenGermline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate genearticleCopyright SOC BRASIL GENETICA10.1590/S1415-47572013000400006Biochemistry & Molecular BiologyGenetics & Heredity1678-4685