title: An inherited small microdeletion at 15q13.3 in a patient with early-onset obsessive-compulsive disorder.
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.
authors.affiliation: Institute and Department of Psychiatry, São Paulo University Medical School, São Paulo, Brazil.
authors.forename: Carolina
authors.initials: C
authors.lastname: Cappi
authors.affiliation: Institute and Department of Psychiatry, São Paulo University Medical School, São Paulo, Brazil; Federal University of São Paulo-UPIA-UNIFESP, São Paulo, Brazil.
authors.forename: Ana Gabriela
authors.initials: AG
authors.lastname: Hounie
authors.affiliation: Inter-institutional Grad Program on Bioinformatics, Institute of Mathematics and Statistics, São Paulo University, São Paulo, Brazil.
authors.forename: Daniel B
authors.initials: DB
authors.lastname: Mariani
authors.affiliation: Institute and Department of Psychiatry, São Paulo University Medical School, São Paulo, Brazil.
authors.forename: Juliana Belo
authors.initials: JB
authors.lastname: Diniz
authors.affiliation: Institute and Department of Psychiatry, São Paulo University Medical School, São Paulo, Brazil.
authors.forename: Aderbal R T
authors.initials: AR
authors.lastname: Silva
authors.affiliation: Institute and Department of Psychiatry, São Paulo University Medical School, São Paulo, Brazil.
authors.forename: Viviane N S
authors.initials: VN
authors.lastname: Reis
authors.affiliation: International Research Center, AC Camargo Cancer Center, São Paulo, Brazil.
authors.forename: Ariane F
authors.initials: AF
authors.lastname: Busso
authors.affiliation: International Research Center, AC Camargo Cancer Center, São Paulo, Brazil.
authors.forename: Amanda Gonçalves
authors.initials: AG
authors.lastname: Silva
authors.affiliation: International Research Center, AC Camargo Cancer Center, São Paulo, Brazil.
authors.forename: Felipe
authors.initials: F
authors.lastname: Fidalgo
authors.affiliation: School of Medicine, São Paulo State University, Botucatu, São Paulo, Brazil.
authors.forename: Silvia Regina
authors.initials: SR
authors.lastname: Rogatto
authors.affiliation: Institute and Department of Psychiatry, São Paulo University Medical School, São Paulo, Brazil.
authors.forename: Euripedes C
authors.initials: EC
authors.lastname: Miguel
authors.affiliation: International Research Center, AC Camargo Cancer Center, São Paulo, Brazil.
authors.forename: Ana C
authors.initials: AC
authors.lastname: Krepischi
authors.affiliation: Institute and Department of Psychiatry, São Paulo University Medical School, São Paulo, Brazil.
authors.forename: Helena
authors.initials: H
authors.lastname: Brentani
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D055028:Comparative Genomic Hybridization; D056915:DNA Copy Number Variations; D005326:Fetal Proteins / Q000235:genetics; D000080865:Formins; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D009771:Obsessive-Compulsive Disorder / Q000235:genetics*
chemical_list: D005326:Fetal Proteins; D000080865:Formins; D008840:Microfilament Proteins; D009687:Nuclear Proteins