An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder

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Cappi, Carolina ^[1] ; Hounie, Ana Gabriela ^{[1, 2]} ; Mariani, Daniel B. ^[3] ; Diniz, Juliana Belo ^[1] ; Silva, Aderbal R. T. ^[1] ; Reis, Viviane N. S. ^[1] ; Busso, Ariane F. ; Silva, Amanda Goncalves ^[4] ; Fidalgo, Felipe ^[4] ; Rogatto, Silvia Regina ^[5] ; Miguel, Euripedes C. ^[1] ; Krepischi, Ana C. ^[4] ; Brentani, Helena ^[1]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Sch Med, Inst & Dept Psychiat, Sao Paulo - Brazil

^[2] Univ Fed Sao Paulo, UPIA, Sao Paulo - Brazil

^[3] Univ Sao Paulo, Inst Math & Stat, Inter Inst Grad Program Bioinformat, Sao Paulo - Brazil

^[4] AC Camargo Canc Ctr, Int Res Ctr, Sao Paulo - Brazil

^[5] Sao Paulo State Univ, Sch Med, Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: PLoS One; v. 9, n. 10 OCT 10 2014.
• Citações Web of Science: 8

Resumo

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. (AU)

• Processo FAPESP: 08/11537-7 - Variações no número de cópias no genoma de pacientes com transtorno obsessivo compulsivo
• Beneficiário: Carolina Cappi
• Linha de fomento: Bolsas no Brasil - Doutorado