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(Reference retrieved automatically from SciELO through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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Villela, Darine [1] ; Kimura, Lilian [1] ; Schlesinger, David [2] ; Goncalves, Amanda [3] ; Pearson, Peter L. [1] ; Suemoto, Claudia K. [4] ; Pasqualucci, Carlos [5] ; Krepischi, Ana Cristina [3] ; Grinberg, Lea T. [5] ; Rosenberg, Carla [1]
Total Authors: 10
[1] Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, BR-05508090 Sao Paulo - Brazil
[2] Inst Israelita Ensino & Pesquisa Albert Einstein, Sao Paulo - Brazil
[3] Hosp AC Camargo Fund Antonio Prudente, Inst Nacl Ciencia & Tecnol Oncogen, Sao Paulo - Brazil
[4] Univ Sao Paulo, Fac Med, Dept Med Interna, BR-05508090 Sao Paulo - Brazil
[5] Univ Sao Paulo, Fac Med, Grp Estudos Envelhecimento Cerebral, Dept Patol, Banco Encefalos Humanos, BR-05508090 Sao Paulo - Brazil
Total Affiliations: 5
Document type: Journal article
Source: GENETICS AND MOLECULAR BIOLOGY; v. 36, n. 4, p. 498-501, 2013.
Web of Science Citations: 4

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. (AU)

FAPESP's process: 09/00898-1 - Submicroscopic genomic imbalances associated with specific congenital abnormalities and mental deficiency phenotypes
Grantee:Carla Rosenberg
Support type: Research Projects - Thematic Grants