Recently, investigations of autism14, 15, 16 and schizophrenia17, 18, 19, 20, 21 have implicated de novo and/or rare copy number variations (CNVs) as being potentially pathogenic in these disorders. These findings are consistent with a genetic model where any of a large number of individually rare mutations of recent origin, and affecting a substantial number of genes involved in neurodevelopment, can contribute to disease predisposition. Given the highly heritable and variable nature of ADHD, we therefore hypothesized that individually rare and inherited structural variants might contribute to disease risk in ADHD, and that such variants are likely enriched within genes involved in neurological processes and neuropsychiatric disease. To our knowledge, this is the first report investigating the role of structural variants in ADHD.
