期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 59, 期 4, 页码 189-194出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2016.02.010
关键词
Autism; Autism spectrum disorders; ASD; CHD8
资金
- clinical laboratory testing
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. (C) 2016 Elsevier Masson SAS. All rights reserved.
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