Article Text

Download PDFPDF
Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications
  1. Fátima Torres1,2,
  2. Mafalda Barbosa3,4,
  3. Patrícia Maciel5,6
  1. 1CGC Genetics, Porto, Portugal
  2. 2Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal
  3. 3Department of Genetics and Genomic Sciences, The Mindich Child Health & Development Institute, The Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, USA
  4. 4Instituto Gulbenkian de Ciência, Oeiras, Portugal
  5. 5Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal
  6. 6ICVS/3B's—PT Government Associate Laboratory, Braga/Guimarães, Portugal
  1. Correspondence to Professor Patrícia Maciel, Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, 4710-057 Braga, Portugal; pmaciel{at}


Neurodevelopmental disorders (NDs) encompass a spectrum of neuropsychiatric manifestations. Chromosomal regions 1q21.1, 3q29, 15q11.2, 15q13.3, 16p11.2, 16p13.1 and 22q11 harbour rare but recurrent CNVs that have been uncovered as being important risk factors for several of these disorders. These rearrangements may underlie a broad phenotypical spectrum, ranging from normal development, to learning problems, intellectual disability (ID), epilepsy and psychiatric diseases, such as autism spectrum disorders (ASDs) and schizophrenia (SZ). The highly increased risk of developing neurodevelopmental phenotypes associated with some of these CNVs makes them an unavoidable element in the clinical context in paediatrics, neurology and psychiatry. However, and although finding these risk loci has been the goal of neuropsychiatric genetics for many years, the translation of this recent knowledge into clinical practice has not been trivial. In this article, we will: (1) review the state of the art on recurrent CNVs associated with NDs, namely ASD, ID, epilepsy and SZ; (2) discuss the models used to dissect the underlying neurobiology of disease, (3) discuss how this knowledge can be used in clinical practice.

  • Neurodevelopmental disorders
  • CNVs, Risk factors
  • Autism, Epilepsy
  • Schizophrenia, Mood disorders
  • Genetic counseling

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.