Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.

@article{Lionel2011RareCN,
  title={Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.},
  author={Anath Christopher Lionel and Jennifer Crosbie and Nicole Souza Barbosa and Tara Goodale and Bhooma Thiruvahindrapuram and Jessica Rickaby and Matthew J. Gazzellone and Andrew R. F. Carson and Jennifer Lynne Howe and Zhuozhi Wang and John Wei and Alexandre F. R. Stewart and Robert Roberts and Ruth Mcpherson and Andreas Fiebig and Andre Franke and Stefan Schreiber and Lonnie Zwaigenbaum and B. Arag{\'o}n Fern{\'a}ndez and Wendy Roberts and Paul D. Arnold and Peter Szatmari and Christian R Marshall and Russell J. Schachar and Stephen W. Scherer},
  journal={Science translational medicine},
  year={2011},
  volume={3 95},
  pages={
          95ra75
        }
}
Attention deficit hyperactivity disorder (ADHD) is a common and persistent condition characterized by developmentally atypical and impairing inattention, hyperactivity, and impulsiveness. We identified de novo and rare copy number variations (CNVs) in 248 unrelated ADHD patients using million-feature genotyping arrays. We found de novo CNVs in 3 of 173 (1.7%) ADHD patients for whom we had DNA from both parents. These CNVs affected brain-expressed genes: DCLK2, SORCS1, SORCS3, and MACROD2. We… CONTINUE READING

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