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

iPSYCH-Broad Consortium

151 Citations (Scopus)

Abstract

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
Number of pages5
ISSN1097-6256
DOIs
Publication statusPublished - Dec 2019

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