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Behavioral Neurogenetics pp 345–360Cite as

Rare Genomic Deletions and Duplications and their Role in Neurodevelopmental Disorders

Part of the Current Topics in Behavioral Neurosciences book series (CTBN,volume 12)

Abstract

Copy number variations (CNVs) are deletions and duplications of DNA sequences that vary in length from a few base pairs to several million. While these structural variations are often benign, they can disrupt vital biological functions and result in disease. CNVs have been identified as causal in a number of neurodevelopmental disorders (NDs), including but not limited to, autism, attention-deficit/hyperactivity disorder (ADHD), and schizophrenia. Here, we examine CNV research into these disorders, and discuss relevant methodological considerations. By identifying specific rare deletions and duplications, we may be better able to determine the etiology of neurodevelopmental disorders and identify appropriate treatments.

Keywords

  • Copy number variation
  • Neurodevelopmental disorder
  • Autism
  • Schizophrenia
  • Attention deficit hyperactivity disorder

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Authors and Affiliations

  1. Center for Applied Genomics, The Children’s Hospital of Philadelphia, Philadelphia, PA, 19104, USA

    Joseph T. Glessner, John J.M. Connolly & Hakon Hakonarson

  2. Division of Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA, 19104, USA

    Hakon Hakonarson

  3. Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, 19104, USA

    Hakon Hakonarson

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  1. Joseph T. Glessner
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  2. John J.M. Connolly
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  3. Hakon Hakonarson
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Correspondence to Hakon Hakonarson .

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  1. , Dep of Pharmacology and Therapeutics, School of Pharmacy, College Rd, Cork, 30, Ireland

    John F. Cryan

  2. , Department of Psychiatry and Psychothera, University of Würzburg, Füchsleinstrasse 15, Würzburg, 97080, Germany

    Andreas Reif

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Glessner, J.T., Connolly, J.J., Hakonarson, H. (2011). Rare Genomic Deletions and Duplications and their Role in Neurodevelopmental Disorders. In: Cryan, J., Reif, A. (eds) Behavioral Neurogenetics. Current Topics in Behavioral Neurosciences, vol 12. Springer, Berlin, Heidelberg. https://doi.org/10.1007/7854_2011_179

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