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Please use this identifier to cite or link to this item: http://acervodigital.unesp.br/handle/11449/117413
Title: 
An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder
Author(s): 
Institution: 
  • Universidade de São Paulo (USP)
  • AC Camargo Canc Ctr
  • Universidade Estadual Paulista (UNESP)
  • Universidade Federal de São Paulo (UNIFESP)
ISSN: 
1932-6203
Sponsorship: 
  • Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
  • Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
Sponsorship Process Number: 
  • FAPESP: 08/11537-7
  • CNPq: MCT/CNPq 14/2008
Abstract: 
Copy number variations (CNVs) have been previously associated with several different neurodevelopmen al psychiatric disorders, such as autism, schizophrenia, and attention deficit hyperactivity disorder (ADHD). The present study consisted of pilot genorne-wide screen for CNVs in a cohort of 16 patients with early-onset obsessive-compulsive disorder (OCD) and 2 mentally healthy individuals, using array-based comparative enomic hybridization (aCGH) on 44K arrays. A small rare nal inherited microdeletion (-64 kb) was identified in chromosome 15q13.3 of one male patient with very early onset have OCD. The deletion encompassed part of the FA/IN1 gene, which is involved with the glutamatergic system This finding supports the hypothesis of a complex network of several genes expressed in the brain cant ibuting for h genetic risk of OCD, and also supports the glutamatergic involvement in OCD, which has been previsously reported in the literature.
Issue Date: 
10-Oct-2014
Citation: 
Plos One. San Francisco: Public Library Science, v. 9, n. 10, 6 p., 2014.
Time Duration: 
6
Publisher: 
Public Library Science
Source: 
http://dx.doi.org/10.1371/journal.pone.0110198
URI: 
Access Rights: 
Acesso aberto
Type: 
outro
Source:
http://repositorio.unesp.br/handle/11449/117413
Appears in Collections:Artigos, TCCs, Teses e Dissertações da Unesp

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