title: Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene.
abstract: 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.
authors.affiliation: Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil .
authors.forename: Darine
authors.initials: D
authors.lastname: Villela
authors.affiliation: Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil .
authors.forename: Lilian
authors.initials: L
authors.lastname: Kimura
authors.affiliation: Instituto Israelita de Ensino e Pesquisa Albert Einstein, São Paulo, SP, Brazil .
authors.forename: David
authors.initials: D
authors.lastname: Schlesinger
authors.affiliation: Instituto Nacional de Ciência e Tecnologia em Oncogenômica, Hospital AC Camargo, São Paulo, SP, Brazil .
authors.forename: Amanda
authors.initials: A
authors.lastname: Gonçalves
authors.affiliation: Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil .
authors.forename: Peter L
authors.initials: PL
authors.lastname: Pearson
authors.affiliation: Departamento de Medicina Interna, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil .
authors.forename: Claudia K
authors.initials: CK
authors.lastname: Suemoto
authors.affiliation: Departamento de Patologia, Banco de Encéfalos Humanos do Grupo de Estudos em Envelhecimento Cerebral, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil .
authors.forename: Carlos
authors.initials: C
authors.lastname: Pasqualucci
authors.affiliation: Instituto Nacional de Ciência e Tecnologia em Oncogenômica, Hospital AC Camargo, São Paulo, SP, Brazil .
authors.forename: Ana Cristina
authors.initials: AC
authors.lastname: Krepischi
authors.affiliation: Departamento de Patologia, Banco de Encéfalos Humanos do Grupo de Estudos em Envelhecimento Cerebral, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil .
authors.forename: Lea T
authors.initials: LT
authors.lastname: Grinberg
authors.affiliation: Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil .
authors.forename: Carla
authors.initials: C
authors.lastname: Rosenberg
keywords: Argyrophilic grain disease; CNVs; CTNS; array-CGH; copy number variations