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Biochem Biophys Res Commun. 2014 Sep 19;452(2):244-53. doi: 10.1016/j.bbrc.2014.08.108. Epub 2014 Aug 27.

Genomic and genetic aspects of autism spectrum disorder.

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RIKEN Brain Science Institute, Wako, Saitama 351-0198, Japan.
RIKEN Brain Science Institute, Wako, Saitama 351-0198, Japan; Japan Science and Technology Agent (JST), Core Research for Evolutional Science and Technology (CREST), Saitama, Japan. Electronic address:


Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic component. The past decade has witnessed tremendous progress in the genetic studies of ASD. In this article, we review the accumulating literatures on the monogenic forms of ASD and chromosomal abnormalities associated with ASD, the genome-wide linkage and association studies, the copy number variation (CNV) and the next generation sequencing (NGS) studies. With more than hundreds of mutations being implicated, the convergent biological pathways are emerging and the genetic landscape of ASD becomes clearer. The genetic studies provide a solid basis for future translational study for better diagnoses, intervention and treatment of ASD.


ASD; Autism; Autism spectrum disorder; CNV; Genetics

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