An inherited small microdeletion at 15q13.3 in a patient with early-onset obsessive-compulsive disorder

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

doi:10.1371/journal.pone.0110198

An inherited small microdeletion at 15q13.3 in a patient with early-onset obsessive-compulsive disorder

PLoS One. 2014 Oct 10;9(10):e110198. doi: 10.1371/journal.pone.0110198. eCollection 2014.

Affiliations

¹ Institute and Department of Psychiatry, São Paulo University Medical School, São Paulo, Brazil.
² Institute and Department of Psychiatry, São Paulo University Medical School, São Paulo, Brazil; Federal University of São Paulo-UPIA-UNIFESP, São Paulo, Brazil.
³ Inter-institutional Grad Program on Bioinformatics, Institute of Mathematics and Statistics, São Paulo University, São Paulo, Brazil.
⁴ International Research Center, AC Camargo Cancer Center, São Paulo, Brazil.
⁵ School of Medicine, São Paulo State University, Botucatu, São Paulo, Brazil.

Abstract

Copy number variations (CNVs) have been previously associated with several different neurodevelopmental psychiatric disorders, such as autism, schizophrenia, and attention deficit hyperactivity disorder (ADHD). The present study consisted of a pilot genome-wide screen for CNVs in a cohort of 16 patients with early-onset obsessive-compulsive disorder (OCD) and 12 mentally healthy individuals, using array-based comparative genomic hybridization (aCGH) on 44K arrays. A small rare paternal inherited microdeletion (∼64 kb) was identified in chromosome 15q13.3 of one male patient with very early onset OCD. The father did not have OCD. The deletion encompassed part of the FMN1 gene, which is involved with the glutamatergic system. This finding supports the hypothesis of a complex network of several genes expressed in the brain contributing for the genetic risk of OCD, and also supports the glutamatergic involvement in OCD, which has been previously reported in the literature.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Age of Onset
Case-Control Studies
Child
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 15*
Comparative Genomic Hybridization
DNA Copy Number Variations
Fetal Proteins / genetics
Formins
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Male
Microfilament Proteins / genetics
Nuclear Proteins / genetics
Obsessive-Compulsive Disorder / genetics*

Substances

Fetal Proteins
Formins
Microfilament Proteins
Nuclear Proteins

Grants and funding

This study was supported by grants to Dras Cappi and Brentani from the Foundation for Research Support of the State of São Paulo (FAPESP); grant number: 2008/11537-7, and from the Brazilian National Council for Scientific and Technological Development (CNPq; protocol number MCT/CNPq 14/2008). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.