Genetics and genomics of autism spectrum disorder: embracing complexity

Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) characterized by impairments in social communication and social interaction and the presence of repetitive behaviors and/or restricted interests. ASD has profound etiological and clinical heterogeneity, which has impeded the ident...

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Published inHuman molecular genetics Vol. 24; no. R1; pp. R24 - R31
Main Authors De Rubeis, Silvia, Buxbaum, Joseph D
Format Journal Article
LanguageEnglish
Published England Oxford University Press 15.10.2015
Subjects
Animals
Autism Spectrum Disorder - genetics
Genetic Association Studies
Genetic Variation
Genomics
Humans
Inheritance Patterns
Invited Reviews
Risk Factors
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Summary:Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) characterized by impairments in social communication and social interaction and the presence of repetitive behaviors and/or restricted interests. ASD has profound etiological and clinical heterogeneity, which has impeded the identification of risk factors and pathophysiological processes underlying the disorder. A constellation of (i) types of genetic variation, (ii) modes of inheritance and (iii) specific genomic loci and genes have all recently been implicated in ASD risk, and these findings are currently being extended with functional analyses in model organisms and genotype-phenotype correlation studies. The overlap of risk loci between ASD and other NDDs raises intriguing questions around the mechanisms of risk. In this review, we will touch upon these aspects of ASD and how they might be addressed.
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ISSN:0964-6906
1460-2083
1460-2083
DOI:10.1093/hmg/ddv273