自闭症谱系障碍
注意缺陷多动障碍
外显子组测序
自闭症
神经发育障碍
心理学
外显子组
基因
神经科学
精神科
遗传学
临床心理学
生物
突变
作者
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 Maller,Merete Nordentoft,Ole Mors,Elise Robinson,David M. Hougaard,Thomas Werge,Preben Bo Mortensen,Benjamin M. Neale,Anders D. Børglum,Mark J. Daly
标识
DOI:10.1038/s41593-019-0527-8
摘要
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.
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