Review Article | Published:

The conundrums of understanding genetic risks for autism spectrum disorders

Nature Neuroscience volume 14, pages 14991506 (2011) | Download Citation

Abstract

Recent advances in the genetics of autism spectrum disorders (ASDs) are offering new valuable insights into molecular and cellular mechanisms of pathology. At the same time, the emerging data challenge long-standing diagnostic conventions and the notion of phenotypic specificity. This review addresses the particular issues that attend gene discovery in neuropsychiatric and neurodevelopmental disorders and ASDs in particular, summarizes recent findings in human genetics broadly that are driving the reevaluation of the conventional wisdom regarding the allelic architecture of common psychiatric conditions, reviews selected discoveries in ASDs and their relevance to models of pathology, highlights the conceptual and practical issues raised by the observation of a convergence of ASD genetic risks with distinct psychiatric disorders, and considers the important interplay of studies of neurobiology and genetics in clarifying and extending our understanding of social disability syndromes.

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Acknowledgements

This work has been supported in part by grants from the Simons Foundation (to M.W.S. and P.L.) and the National Institute of Mental Health (MH067842 and MH080759 to P.L. and MH089956 and MH081754 to M.W.S.).

Author information

Affiliations

  1. Program on Neurogenetics, Departments of Child Psychiatry, Psychiatry and Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.

    • Matthew W State
  2. Zilkha Neurogenetic Institute, Department of Cell and Neurobiology, Keck School of Medicine of University of Southern California, Los Angeles, California, USA.

    • Pat Levitt

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Competing interests

Matthew W. State co-holds a patent pertaining to rare variation in the CNTNAP2 gene and the risk for autism spectrum disorders.

Corresponding authors

Correspondence to Matthew W State or Pat Levitt.

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DOI

https://doi.org/10.1038/nn.2924

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