Autism spectrum disorders: autistic phenotypes and complicated mechanisms
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Autism spectrum disorder (ASD), a pervasive developmental neurological disorder, is characterized by impairments in social interaction and communication, and stereotyped, repetitive patterns of interests or behaviors. The mechanism of ASDs is complex, and genetic components and epigenetic modifications play important roles. In this review, we summarized the recent progresses of ASDs focusing on the genetic and epigenetic mechanisms. We also briefly discussed current animal models of ASD and the application of high-throughput sequencing technologies in studying ASD.
Original research articles and literature reviews published in PubMed-indexed journals.
Individuals with ASDs exhibit a set of phenotypes including neurological alteration. Genetic components including gene mutation, copy-number variations, and epigenetic modifications play important and diverse roles in ASDs. The establishment of animal models and development of new-generation sequencing technologies have contributed to reveal the complicated mechanisms underlying autistic phenotypes.
Dramatic progress has been made for understanding the roles of genetic and epigenetic components in ASD. Future basic and translational studies should be carried out towards those candidate therapeutic targets.
KeywordsAutism spectrum disorders Genetics Epigenetics CNV Next-generation sequencing
XL, XZ, LS, and XZ wrote the manuscript.
X.L. was supported in part by the National Key Research and Development Program of China (No. 2016YFC0900400), the National Natural Science Foundation of China (31771395, 31571518), and the International Collaboration Program of Science Technology Department of Zhejiang Province (2016C34004). The authors declare that they have no financial or nonfinancial benefits have been received or will be received from any party related directly or indirectly to the subject of this article.
Compliance with ethical standards
Not required for this review article.
Conflict of interest
- 4.Christensen DL, Baio J, Van Naarden Braun K, Bilder D, Charles J, Constantino JN, et al. Prevalence and characteristics of autism spectrum disorder among children aged 8 years—autism and developmental disabilities monitoring network, 11 sites, United States, 2012. Morb Mortal Wkly Rep Surveill Summ (Washington, DC: 2002). 2016;65:1–23.Google Scholar
- 11.Casanova MF. Neuropathological and genetic findings in autism: the significance of a putative minicolumnopathy. Neurosci. 2006;12:435–41.Google Scholar
- 88.Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86:749–64.PubMedPubMedCentralCrossRefGoogle Scholar