Title |
Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene
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Published in |
Genetics and Molecular Biology, November 2013
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DOI | 10.1590/s1415-47572013000400006 |
Pubmed ID | |
Authors |
Darine Villela, Lilian Kimura, David Schlesinger, Amanda Gonçalves, Peter L. Pearson, Claudia K. Suemoto, Carlos Pasqualucci, Ana Cristina Krepischi, Lea T. Grinberg, Carla Rosenberg |
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. |
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United States | 1 | 100% |
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Members of the public | 1 | 100% |
Mendeley readers
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Unknown | 15 | 100% |
Demographic breakdown
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Student > Ph. D. Student | 4 | 27% |
Other | 3 | 20% |
Professor > Associate Professor | 2 | 13% |
Student > Master | 2 | 13% |
Professor | 1 | 7% |
Other | 2 | 13% |
Unknown | 1 | 7% |
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Biochemistry, Genetics and Molecular Biology | 3 | 20% |
Agricultural and Biological Sciences | 3 | 20% |
Unspecified | 1 | 7% |
Arts and Humanities | 1 | 7% |
Other | 0 | 0% |
Unknown | 1 | 7% |