| Texto completo | |
| Autor(es): |
Darine Villela
[1]
;
Lilian Kimura
[1]
;
David Schlesinger
[2]
;
Amanda Gonçalves
[4]
;
Peter L. Pearson
[1]
;
Claudia K. Suemoto
[4]
;
Carlos Pasqualucci
[5]
;
Ana Cristina Krepischi
[6]
;
Lea T. Grinbergand
[9]
;
Carla Rosenberg
[1]
Número total de Autores: 10
|
| Afiliação do(s) autor(es): | [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] A.C. Camargo Cancer Center. Instituto Nacional de Ciência e Tecnologia em Oncogenômica - Brasil
[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
[6] Hosp AC Camargo Fund Antonio Prudente, Inst Nacl Ciencia & Tecnol Oncogen, Sao Paulo - Brazil
[7] Universidade de São Paulo. Faculdade de Medicina. Departamento de Patologia - Brasil
Número total de Afiliações: 7
|
| Tipo de documento: | Artigo Científico |
| Fonte: | GENETICS AND MOLECULAR BIOLOGY; v. 36, n. 4, p. 498-501, 2013-00-00. |
| 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. (AU) | |
| Processo FAPESP: | 09/00898-1 - Desequilíbrios genômicos submicroscópicos em quadros clínicos específicos de anomalias congênitas e deficiência mental |
| Beneficiário: | Carla Rosenberg |
| Modalidade de apoio: | Auxílio à Pesquisa - Temático |