title: The genetic landscapes of autism spectrum disorders.
abstract: The autism spectrum disorders (ASD) are characterized by impairments in social interaction and stereotyped behaviors. For the majority of individuals with ASD, the causes of the disorder remain unknown; however, in up to 25% of cases, a genetic cause can be identified. Chromosomal rearrangements as well as rare and de novo copy-number variants are present in ∼10-20% of individuals with ASD, compared with 1-2% in the general population and/or unaffected siblings. Rare and de novo coding-sequence mutations affecting neuronal genes have also been identified in ∼5-10% of individuals with ASD. Common variants such as single-nucleotide polymorphisms seem to contribute to ASD susceptibility, but, taken individually, their effects appear to be small. Despite a heterogeneous genetic landscape, the genes implicated thus far-which are involved in chromatin remodeling, metabolism, mRNA translation, and synaptic function-seem to converge in common pathways affecting neuronal and synaptic homeostasis. Animal models developed to study these genes should lead to a better understanding of the diversity of the genetic landscapes of ASD.
authors.affiliation: Human Genetics and Cognitive Functions Unit, Institut Pasteur, 75015 Paris, France; email: thomasb@pasteur.fr.
authors.forename: Guillaume
authors.initials: G
authors.lastname: Huguet
authors.forename: Elodie
authors.initials: E
authors.lastname: Ey
authors.forename: Thomas
authors.initials: T
authors.lastname: Bourgeron
mesh_terms: D000818:Animals; D001921:Brain / Q000502:physiology; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D056915:DNA Copy Number Variations; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D020641:Polymorphism, Single Nucleotide