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.

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

Lescai F.;
2019-01-01

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.
2019
Inglese
Internazionale
22
12
1961
1965
5
Attention Deficit Disorder with Hyperactivity; Autism Spectrum Disorder; Case-Control Studies; Exome; Female; Genetic Predisposition to Disease; Genetic Variation; Humans; Male; Microtubule-Associated Proteins
22
info:eu-repo/semantics/article
262
Satterstrom, F. K.; Walters, R. K.; Singh, T.; Wigdor, E. M.; Lescai, F.; Demontis, D.; Kosmicki, J. A.; Grove, J.; Stevens, C.; Bybjerg-Grauholm, J.;...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/1400574
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