title: Rare genomic deletions and duplications and their role in neurodevelopmental disorders.
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.
authors.affiliation: Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
authors.forename: Joseph T
authors.initials: JT
authors.lastname: Glessner
authors.forename: John J M
authors.initials: JJ
authors.lastname: Connolly
authors.forename: Hakon
authors.initials: H
authors.lastname: Hakonarson
mesh_terms: D000818:Animals; D056915:DNA Copy Number Variations / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D001523:Mental Disorders / Q000235:genetics*