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Cover Image,Volume 37, Issue 1
Authors:Jiani Yin  Christian P. Schaaf
Affiliation:1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA

Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA;2. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA

Abstract:Autism spectrum disorder (ASD) is a highly heritable, clinically diverse group of neurodevelopmental disorders. Its genetic heterogeneity is remarkable, with more than 800 ASD predisposition genes identified to date. They are involved in various biological processes, including chromatin remodeling and gene transcription regulation, cell growth and proliferation, ubiquitination, and neuronal-specific processes, such as synaptic organization and activity, dendritic morphology, and axonogenesis. This review aims to discuss basic autism genetics, explicate ways to investigate ASD in model systems, highlight some key genes and their molecular pathways, and introduce novel theories of ASD pathogenesis, such as imbalance of excitatory and inhibitory brain activity, oligogenic heterozygosity, and the female protective model. © 2016 John Wiley & Sons, Ltd.
Keywords:
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