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

作者：Cappi Carolina^*; Hounie Ana Gabriela; Mariani Daniel B; Diniz Juliana Belo; Silva Aderbal R T; Reis Viviane N S; Busso Ariane F; Silva Amanda Goncalves; Fidalgo Felipe; Rogatto Silvia Regina; Miguel Euripedes C; Krepischi Ana C; Brentani Helena

来源：PLos One, 2014, 9(10): e110198.

DOI：10.1371/journal.pone.0110198

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.

• 出版日期2014-10-10