Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder Have a Similar Burden of Rare Protein-Truncating Variants

Nat Neurosci. 2019 Dec;22(12):1961-1965. doi: 10.1038/s41593-019-0527-8. Epub 2019 Nov 25.


The exome sequences of approximately 8,000 children with autism spectrum disorder (ASD) and/or attention deficit hyperactivity disorder (ADHD) and 5,000 controls were analyzed, finding that individuals with ASD and individuals with ADHD had a similar burden of rare protein-truncating variants in evolutionarily constrained genes, both significantly higher than controls. This motivated a combined analysis across ASD and ADHD, identifying microtubule-associated protein 1A (MAP1A) as a new exome-wide significant gene conferring risk for childhood psychiatric disorders.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Attention Deficit Disorder with Hyperactivity / complications
  • Attention Deficit Disorder with Hyperactivity / genetics*
  • Autism Spectrum Disorder / complications
  • Autism Spectrum Disorder / genetics*
  • Case-Control Studies
  • Exome / genetics
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genetic Variation / genetics*
  • Humans
  • Male
  • Microtubule-Associated Proteins / genetics*


  • MAP1A protein, human
  • Microtubule-Associated Proteins