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01.07.2015 | Review

Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms

verfasst von: Ece D. Gamsiz, Laura N. Sciarra, Abbie M. Maguire, Matthew F. Pescosolido, Laura I. van Dyck, Eric M. Morrow

Erschienen in: Neurotherapeutics | Ausgabe 3/2015

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Abstract

Autism spectrum disorder (ASD) is a group of highly genetic neurodevelopmental disorders characterized by language, social, cognitive, and behavioral abnormalities. ASD is a complex disorder with a heterogeneous etiology. The genetic architecture of autism is such that a variety of different rare mutations have been discovered, including rare monogenic conditions that involve autistic symptoms. Also, de novo copy number variants and single nucleotide variants contribute to disease susceptibility. Finally, autosomal recessive loci are contributing to our understanding of inherited factors. We will review the progress that the field has made in the discovery of these rare genetic variants in autism. We argue that mutation discovery of this sort offers an important opportunity to identify neurodevelopmental mechanisms in disease. The hope is that these mechanisms will show some degree of convergence that may be amenable to treatment intervention.

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Titel: Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms
verfasst von: Ece D. Gamsiz
Laura N. Sciarra
Abbie M. Maguire
Matthew F. Pescosolido
Laura I. van Dyck
Eric M. Morrow
Publikationsdatum: 01.07.2015
Verlag: Springer US
Erschienen in: Neurotherapeutics / Ausgabe 3/2015
Print ISSN: 1933-7213
Elektronische ISSN: 1878-7479
DOI: https://doi.org/10.1007/s13311-015-0363-9

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