11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity


  • Competing interests: Many of the authors are or were faculty members in the Department of Molecular and Human Genetics at Baylor College of Medicine (BCM) which offers extensive genetic laboratory testing including use of arrays for genomic copy number analysis, and the department derives revenue from this activity.

  • How to Cite this Article: Shinawi M, Sahoo T, Maranda B, Skinner SA, Skinner C, Chinault C, Zascavage R, Peters SU, Patel A, Stevenson RE, Beaudet AL. 2011. 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity. Am J Med Genet Part A 155:1272–1280.


Genomic copy number imbalances are being increasingly identified as an important cause of intellectual disability and behavioral abnormalities. The typical deletion in WAGR syndrome encompasses the PAX6 and WT1 genes, but larger deletions have been associated with neurobehavioral abnormalities and obesity. We identified four patients with overlapping interstitial deletions on 11p14.1 and extending telomeric to the WAGR critical domain. The minimal overlapping critical chromosomal region was 2.3 Mb at 11p14.1. The deletions encompass the BDNF and LIN7C genes that are implicated in the regulation of development and differentiation of neurons and synaptic transmission. All patients with this deletion exhibit variable degrees of developmental 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.