Genetics of Autism

  • Brett S. Abrahams
  • Daniel H. Geschwind


We have learned more about the molecular genetics of autism in the last 3 years than in the previous 30. This includes both a new appreciation for the role of rare genetic variation and the identification of the first contributory common variants by genome-wide association. These data show that although the population attributable risk of common variation may be moderate to large, the genotype risk of common variants at the individual level are small. In contrast, a large number of diverse rare mutations of large effect have been identified, but none appear specific to autism. All of these findings point to extreme genetic heterogeneity suggesting complex gene-gene or gene-environment interactions in autism etiology. Available knowledge, reviewed below, also suggests that phenotypic presentation is the result of complex interactions, and that implicated genetic risk factors in many cases cross the boundaries of established clinical diagnostic categories. Acceptance of this complexity and efforts to understand genetic variation in terms of intermediate phenotypes represent important directions for future research.


Autism Spectrum Disorder Autism Spectrum Disorder Tourette Syndrome Rett Syndrome Acad Child Adolesc Psychiatry 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2010

Authors and Affiliations

  • Brett S. Abrahams
    • 1
  • Daniel H. Geschwind
    • 2
  1. 1.Program in Neurogenetics and Department of Neurology Semel Institute for Neuroscience and Behavior at the David Geffen School of MedicineUniversity of California at Los AngelesLos AngelesUSA
  2. 2.Programs in Neurogenetics and Neurobehavioural Genetics, Neurology Department, and Semel Institute for Neuroscience and Behavior, David Geffen School of MedicineUniversity of California at Los AngelesLos AngelesUSA

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