RESEARCH ARTICLE 11p14.1 Microdeletions Associated With ADHD, Autism, Developmental Delay, and Obesity

tified as an important cause of intellectual disability and behav-ioral abnormalities. The typical deletion in WAGR syndrome encompasses thePAX6 andWT1 genes, but larger deletions have beenassociatedwithneurobehavioral abnormalities andobesity. We identified four patients with overlapping interstitial dele-tions on 11p14.1 and extending telomeric to the WAGR critical domain. The minimal overlapping critical chromosomal region was 2.3Mb at 11p14.1. The deletions encompass the BDNF and LIN7C genes that are implicated in the regulation of develop-ment and differentiation of neurons and synaptic transmission. All patients with this deletion exhibit variable degrees of devel-opmental delay, behavioral problems, and obesity. Our data show that ADHD, autism, developmental delay, and obesity are highly associated with deletion involving 11p14.1 and provide additional support for a significant role of BDNF in obesity and neurobehavioral problems. 2011 Wiley-Liss, Inc. Key words: microdeletion; developmental delay; ADHD; autism