Genetic architecture in autism spectrum disorder
Section snippets
Autism spectrum disorder (ASD)
Autism spectrum disorder (Figure 1) is a lifelong developmental condition that affects about 1 in 110 individuals [1], with onset before the age of three years. It is characterized by abnormalities in communication, impaired social function, repetitive behaviors and restricted interests [2]. The presentation of autistic features is variable, with symptoms ranging from mild to severe, sometimes with poor clinical outcomes. These individuals vary greatly in cognitive development, with some who
ASD: genetically heterogeneous
As we shall discuss, various genes certainly have an important role in ASD, and there has been incremental progress toward their identification, enhancing clinical definition and diagnostic tools [3, 15, 16, 17, 18].
Future investigation
As documented above, de novo genetic variation has an important role in risk for an ASD phenotype. From an evolutionary perspective, this is unsurprising because interest in reproductive success is typically low in individuals with autism, such that genetic variants would be subject to negative selection. If inherited variation were to contribute significantly in ASD risk, it would need to be shielded, at least partly, from this selection [90]. Possible mechanisms include sex-differential
References and recommended reading
Papers of particular interest, published within the period of review, have been highlighted as:
• of special interest
•• of outstanding interest
Acknowledgements
The authors wish to thank Anath C. Lionel for assistance. BD is supported by MH057881. SWS holds the GlaxoSmithKline Canadian Institutes of Health Research (CIHR) Endowed Chair in Genome Sciences.
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