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Genetics and Epigenetics of Autism Spectrum Disorders

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Epigenetics, Brain and Behavior

Part of the book series: Research and Perspectives in Neurosciences ((NEUROSCIENCE))

Abstract

Autism spectrum disorders (ASD) are characterized by impairments in reciprocal social communication and stereotyped behaviors. Genetic and epigenetic studies have identified a relatively large number of genes and biological processes that constitute a comprehensive framework to better understand this heterogeneous syndrome. Based on the most robust findings, three observations can be made. First, genetic and epigenetic contributions to ASD are highly heterogeneous with most likely, at the genetic level, a combination of alleles with low and high penetrance. Second, the majority of the genetic mutations apparently affect a single allele, suggesting a key role for gene dosage in the susceptibility to ASD. Finally, the broad expression and function of the causative genes suggest that alteration of synaptic homeostasis could be a common biological process associated with ASD. The large spectrum of clinical heterogeneity might be due to the inter-individual difference in the capacity of “buffering” deleterious synaptic mutations. A better understanding of the interplay between genetic/epigenetic variations and synaptic homeostasis should shed new light on the causes of ASD and may provide means to modulate the severity of the symptoms.

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Acknowledgments

I thank Isabelle Cloez-Tayarani for critical reading of the manuscript. This work was supported by the Institut Pasteur, Université Denis Diderot Paris 7, INSERM, CNRS, ANR, ERANET-NEURON, Fondation Orange, Tarifold, Fondation de France, Fondation FondaMentale.

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Authors and Affiliations

  1. Human Genetics and Cognitive Functions, Institut Pasteur, 25 rue du Docteur Roux, 75015, Paris, France

    Thomas Bourgeron Ph.D

  2. CNRS URA 2182 “Genes, synapses and cognition,” Institut Pasteur, Paris, France

    Thomas Bourgeron Ph.D

  3. Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Univ. Paris Diderot, Paris, France

    Thomas Bourgeron Ph.D

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  1. Thomas Bourgeron Ph.D
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Correspondence to Thomas Bourgeron Ph.D .

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Editors and Affiliations

  1. School of Medicine, Center for Metabolism and Epigenetics, University of California at Irvine, Sprague Hall 324, Irvine, 92697, California, USA

    Paolo Sassone Corsi

  2. Recherche Therapeutique, Fondation IPSEN pour la, quai George Gorse 65, Boulogne Billancourt Cedex, 92650, France

    Yves Christen

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Bourgeron, T. (2012). Genetics and Epigenetics of Autism Spectrum Disorders. In: Sassone Corsi, P., Christen, Y. (eds) Epigenetics, Brain and Behavior. Research and Perspectives in Neurosciences. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-27913-3_10

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