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Rare Genetic Variants and Autism Spectrum Disorders 

Rare Genetic Variants and Autism Spectrum Disorders

Hande Kaymakçalan

and Matthew W. State


This chapter discusses the contribution of rare and very rare genetic variation to autism spectrum disorders (ASD). The first section provides a basic background into the nature of genetic variation and distinctions between common and rare alleles. The second describes two competing, but not necessarily mutually exclusive, hypotheses about the genomic underpinnings of ASD, the common-variant: common-disease hypothesis and the rare-variant: common-disease hypothesis. The section third addresses the so-called “outlier strategy” of gene discovery, in which the focus is on rare and very rare alleles irrespective of their overall contribution to population risk. The fourth addresses the emerging evidence regarding the cumulative contribution of rare variation to ASD, including a consideration of opportunities and challenges facing current efforts to tackle this question. Finally, the chapter considers recent rare variant discoveries that have raised the prospect that a given specific genetic mutation may contribute to a broad spectrum of neuropsychiatric and neurodevelopmental outcomes ranging from ASD to mental retardation, seizure, and schizophrenia.

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