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

Marwan Shinawi, Trilochan Sahoo, Bruno Maranda, S. A. Skinner, Cindy Skinner, Craig Chinault, Roxanne Zascavage, Sarika U. Peters, Ankita Patel, Roger E. Stevenson, Arthur L. Beaudet

Research output: Contribution to journalArticle

59 Scopus citations

Abstract

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 2.3Mb 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.

Original languageEnglish
Pages (from-to)1272-1280
Number of pages9
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number6
DOIs
StatePublished - Jun 1 2011

Keywords

  • 11p14.1
  • ADHD
  • Autism
  • BDNF
  • Developmental delay
  • Microdeletion
  • Obesity
  • WAGR

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    Shinawi, M., Sahoo, T., Maranda, B., Skinner, S. A., Skinner, C., Chinault, C., Zascavage, R., Peters, S. U., Patel, A., Stevenson, R. E., & Beaudet, A. L. (2011). 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity. American Journal of Medical Genetics, Part A, 155(6), 1272-1280. https://doi.org/10.1002/ajmg.a.33878