Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants.
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ABSTRACT:
SUBMITTER: Satterstrom FK
PROVIDER: S-EPMC6884695 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Publications
Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants.
Satterstrom F Kyle FK Walters Raymond K RK Singh Tarjinder T Wigdor Emilie M EM Lescai Francesco F Demontis Ditte D Kosmicki Jack A JA Grove Jakob J Stevens Christine C Bybjerg-Grauholm Jonas J Bækvad-Hansen Marie M Palmer Duncan S DS Maller Julian B JB Nordentoft Merete M Mors Ole O Robinson Elise B EB Hougaard David M DM Werge Thomas M TM Bo Mortensen Preben P Neale Benjamin M BM Børglum Anders D AD Daly Mark J MJ
Nature neuroscience 20191125 12
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-wid ...[more]
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