Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants.
F Kyle SatterstromRaymond K WaltersTarjinder SinghEmilie M WigdorFrancesco LescaiDitte DemontisJack A KosmickiJakob GroveChristine StevensJonas Byberg-GrauholmMarie Bækvad-HansenDuncan S PalmerJulian B Mallernull nullMerete NordentoftOle MorsElise B RobinsonDavid Michael HougaardThomas M WergePreben Bo MortensenBenjamin M NealeAnders Dupont BørglumMark J DalyPublished in: Nature neuroscience (2019)
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.