CHD8 intragenic deletion associated with autism spectrum disorder

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• 作者：Elliot S. Stolerman ; ^{estolerman@ggc.org" class="auth_mail" title="E-mail the corresponding author} ; Brooke Smith ; Alka Chaubey ; Julie R. Jones
• 关键词：Autism ; Autism spectrum disorders ; ASD ; CHD8
• 刊名：European Journal of Medical Genetics
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：59
• 期：4
• 页码：189-194
• 全文大小：695 K

文摘

Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders that are highly heritable. De novo genomic alterations are considered an important cause of autism spectrum disorders. Recent research has shown that de novo loss-of-function mutations in the chromodomain helicase DNA-binding protein 8 (CHD8) gene are associated with an increased risk of ASD. We describe a single case of an intragenic deletion of exons 26–28 in the CHD8 gene in a patient with autism and global developmental delay. Our clinical case supports the hypothesis that CHD8 may play a central role in neuronal cell development and ASD risk.