Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene
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Citações na Scopus
6
Tipo de produção
article
Data de publicação
2013
Título da Revista
ISSN da Revista
Título do Volume
Editora
SOC BRASIL GENETICA
Autores
VILLELA, Darine
KIMURA, Lilian
SCHLESINGER, David
GONCALVES, Amanda
PEARSON, Peter L.
KREPISCHI, Ana Cristina
ROSENBERG, Carla
Citação
GENETICS AND MOLECULAR BIOLOGY, v.36, n.4, p.498-501, 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.
Palavras-chave
Argyrophilic grain disease, copy number variations, CNVs, array-CGH, CTNS
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