美国博德研究所Mark J. Daly、F. Kyle Satterstrom和丹麦伦德贝克基金会Anders D. Børglum课题组合作发现，自闭症谱系障碍和注意力缺陷多动症之间有类似的罕见蛋白截断变异现象。该项研究成果在线发表在11月25日的《自然—神经科学》上。

研究人员分析了约8,000名自闭症谱系障碍（ASD）、注意缺陷多动症（ADHD）以及5,000名对照儿童的外显子组序列，发现患有ASD以及 ADHD的个体其进化保守的基因内存在相似的稀有蛋白截短变异，且两者均显着高于对照组。

这促使研究人员对ASD和ADHD个体进行综合分析，发现微管相关蛋白1A（MAP1A）是一个新的可能造成儿童精神疾病的外显子显著基因。

附：英文原文

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

Author: 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 Bkvad-Hansen, Duncan S. Palmer, Julian B. Maller, Merete Nordentoft, Ole Mors, Elise B. Robinson, David M. Hougaard, Thomas M. Werge, Preben Bo Mortensen, Benjamin M. Neale, Anders D. Brglum, Mark J. Daly

Issue&Volume: 2019-11-25

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.

DOI: 10.1038/s41593-019-0527-8

Source: https://www.nature.com/articles/s41593-019-0527-8