Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants

Research output: Contribution to journalJournal articleResearchpeer-review

  • F Kyle Satterstrom
  • Raymond K Walters
  • Tarjinder Singh
  • Emilie M Wigdor
  • Francesco Lescai
  • Ditte Demontis
  • Jack A Kosmicki
  • Jakob Grove
  • Christine Stevens
  • Jonas Bybjerg-Grauholm
  • Marie Bækvad-Hansen
  • Duncan S Palmer
  • Julian B Maller
  • Nordentoft, Merete
  • Ole Mors
  • Elise B Robinson
  • David M Hougaard
  • Werge, Thomas
  • Preben Bo Mortensen
  • Benjamin M Neale
  • Anders D Børglum
  • Mark J Daly
  • iPSYCH-Broad Consortium

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.

Original languageEnglish
JournalNature Neuroscience
Volume22
Issue number12
Pages (from-to)1961-1965
ISSN1097-6256
DOIs
Publication statusPublished - 2019

ID: 231901715