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Recent Advances in the Genetics of Autism Spectrum Disorder

  • Genetics (V Bonifati, Section Editor)
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Abstract

Autism spectrum disorder (ASD) is a devastating neurodevelopmental disorder with high prevalence in the population and a pronounced male preponderance. ASD has a strong genetic basis, but until recently, a large fraction of the genetic factors contributing to liability was still unknown. Over the past 3 years, high-throughput next-generation sequencing on large cohorts has exposed a heterogeneous and complex genetic landscape and has revealed novel risk genes. Here, we provide an overview of the recent advances on the ASD genetic architecture, with an emphasis on the estimates of heritability, the contribution of common variants, and the role of inherited and de novo rare variation. We also examine the genetic components of the reported gender bias. Finally, we discuss the emerging findings from sequencing studies and how they illuminate crucial aspects of ASD pathophysiology.

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Conflict of Interest

Silvia De Rubeis and Joseph D. Buxbaum declare that they have no conflict of interest.

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Authors and Affiliations

  1. Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, 10029, NY, USA

    Silvia De Rubeis & Joseph D. Buxbaum

  2. Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, 10029, NY, USA

    Silvia De Rubeis & Joseph D. Buxbaum

  3. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, 10029, NY, USA

    Joseph D. Buxbaum

  4. Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, 10029, NY, USA

    Joseph D. Buxbaum

  5. Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, 10029, NY, USA

    Joseph D. Buxbaum

  6. The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, 10029, NY, USA

    Joseph D. Buxbaum

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  1. Silvia De Rubeis
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Correspondence to Joseph D. Buxbaum.

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De Rubeis, S., Buxbaum, J.D. Recent Advances in the Genetics of Autism Spectrum Disorder. Curr Neurol Neurosci Rep 15, 36 (2015). https://doi.org/10.1007/s11910-015-0553-1

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