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The Autistic Spectrum Disorders (ASD): From the Clinics to the Molecular Analysis

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Organism Models of Autism Spectrum Disorders

Part of the book series: Neuromethods ((NM,volume 100))

Abstract

Autism has been described first as a behavioral disorder with emphasis on language and communication difficulties. Modeling the disease in nonhuman species was limited to analogic models. Recent advances combining genetic and molecular approaches have offered new perspectives. It has revealed that a wide number of genes were associated with autism spectrum disorder (ASD). ASD appears as a set of rare diseases. At the end of April 2013, we inventoried 66 PubMed entries associating reliably identified genes with standardized ASD diagnoses. The analysis of corresponding published papers demonstrates that almost all the genes impact neuron functions and more exactly transmission processes. We show that 51 out of the 66 genes are associated with a unique signaling pathway. The enrichment strategy using Gene Ontology (GO) combined with multivariate statistics indicates the impact of the signaling pathway on neuronal and regulatory or metabolic functions. This new vista offered by human genetics suggests the possibility to model genetic disorders associated with autism rather than an abstract nosography category.

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Authors and Affiliations

  1. Aix Marseille Université Inserm, UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, 27 Bd. Jean Moulin, Marseille Cedex 5, 13385, France

    Pierre L. Roubertoux

  2. INSERM, UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, 27 Bd. Jean Moulin, Marseille Cedex 5, 13385, France

    Pierre L. Roubertoux

  3. CNRS UMR 8158, Université Paris Descartes, Paris, France

    Sylvie Tordjman

  4. Pôle Hospitalo-Universitaire de Psychiatrie de l’Enfant et de l’Adolescent, Université de Rennes 1, Centre Hospitalier Guillaume Régnier, 154 rue de Châtillon, 35200, Rennes, France

    Sylvie Tordjman

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  1. Pierre L. Roubertoux
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  2. Sylvie Tordjman
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Correspondence to Pierre L. Roubertoux .

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  1. Inserm GMGF UMR_S 910, Génomique Fonctionnelle INSERM UMR_S 910, Aix Marseille Université, Génétique Médicale, Marseille, France

    Pierre L. Roubertoux

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Roubertoux, P.L., Tordjman, S. (2015). The Autistic Spectrum Disorders (ASD): From the Clinics to the Molecular Analysis. In: Roubertoux, P. (eds) Organism Models of Autism Spectrum Disorders. Neuromethods, vol 100. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-2250-5_2

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  • DOI: https://doi.org/10.1007/978-1-4939-2250-5_2

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