title: Genetics and genomics of autism spectrum disorder: embracing complexity.
abstract: 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.
authors.affiliation: Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, 1468 Madison Avenue, New York, NY 10029, USA Department of Psychiatry, Icahn School of Medicine at Mount Sinai, 1468 Madison Avenue, New York, NY 10029, USA.
authors.forename: Silvia
authors.initials: S
authors.lastname: De Rubeis
authors.affiliation: Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, 1468 Madison Avenue, New York, NY 10029, USA Department of Psychiatry, Icahn School of Medicine at Mount Sinai, 1468 Madison Avenue, New York, NY 10029, USA Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1468 Madison Avenue, New York, NY 10029, USA Department of Neuroscience, Icahn School of Medicine at Mount Sinai, 1468 Madison Avenue, New York, NY 10029, USA Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, 1468 Madison Avenue, New York, NY 10029, USA and The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, 1468 Madison Avenue, New York, NY 10029, USA joseph.buxbaum@mssm.edu.
authors.forename: Joseph D
authors.initials: JD
authors.lastname: Buxbaum
mesh_terms: D000818:Animals; D000067877:Autism Spectrum Disorder / Q000235:genetics*; D056726:Genetic Association Studies; D014644:Genetic Variation; D023281:Genomics; D006801:Humans; D040582:Inheritance Patterns; D012307:Risk Factors