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

Research output: Contribution to journalJournal articleResearchpeer-review

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.

Original languageEnglish
Article numbere110198
JournalPLOS ONE
Volume9
Issue number10
Number of pages6
ISSN1932-6203
DOIs
Publication statusPublished - 2014
Externally publishedYes

Keywords

  • 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
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • Male
  • Microfilament Proteins
  • Nuclear Proteins
  • Obsessive-Compulsive Disorder

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