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

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]

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

• 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