期刊
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
卷 452, 期 2, 页码 244-253出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.bbrc.2014.08.108
关键词
Autism; Autism spectrum disorder; ASD; Genetics; CNV
资金
- Japan Society of Promotion of Science
- Ministry of Education, Culture, Sports, Science, and Technology KAKENHI
- Strategic International Coorperative Program
- CREST, Japan Science and Technology Agency
- Grants-in-Aid for Scientific Research [25242077] Funding Source: KAKEN
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. (C) 2014 Elsevier Inc. All rights reserved.
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