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An Overview of the Genetics of Autism Spectrum Disorders 

An Overview of the Genetics of Autism Spectrum Disorders
Chapter:
An Overview of the Genetics of Autism Spectrum Disorders
Author(s):

Joseph D. Buxbaum

DOI:
10.1093/med/9780199744312.003.0004
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date: 25 February 2020

There is very good evidence for a strong genetic component to the autism spectrum disorders (ASDs), which include autistic disorder, Asperger syndrome, pervasive developmental disorder not otherwise specified, and Rett syndrome. At the same time, identifying the loci contributing to ASD risk has proven difficult because of extreme heterogeneity. However, in spite of these difficulties, many ASD loci have been identified and, even using current clinical measures, an etiological diagnosis can be given in upward of 20% of cases. With the introduction of “second-generation” sequencing, gene discovery in ASDs will accelerate. As genes are being discovered, functional analyses are leading to potential novel therapeutics, and there is great optimism for more effective treatments in ASDs arising from gene discovery. In the current review, some of the important findings in ASD genetics will be outlined, as will the next steps in ASD genetics.

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