The consensus duplicated region at 16p13.11 spans only seven genes and is flanked by segmental duplications that predispose to recurrent chromosomal rearrangements (figure 2). The genes mapping within 16p13.11 therefore provide a specific focus for further research into the neurobiology of ADHD. Among the genes spanned by the CNV, NDE1 (nuclear distribution gene E homologue 1) is of particular interest because of its role in neurodevelopment and interaction with DISC1 (disrupted in schizophrenia 1), a gene implicated in schizophrenia and other major psychiatric disorders that encodes a protein also involved in neurodevelopmental processes.35,36 Other investigators have detected CNVs spanning this region; deletions have been strongly associated with intellectual disability,17,37 whereas duplications have been detected in patients with autism,38 intellectual disability,17,38 and schizophrenia,10,11 again suggesting that the same large, rare CNVs might contribute to several, phenotypically different neurodevelopmental disorders.
