Autism Genetics

Behav Brain Res. 2013 Aug 15;251:95-112. doi: 10.1016/j.bbr.2013.06.012. Epub 2013 Jun 13.

Abstract

Autism spectrum disorder (ASD) is a severe neuropsychiatric disease with strong genetic underpinnings. However, genetic contributions to autism are extremely heterogeneous, with many different loci underlying the disease to a different extent in different individuals. Moreover, the phenotypic expression (i.e., "penetrance") of these genetic components is also highly variable, ranging from fully penetrant point mutations to polygenic forms with multiple gene-gene and gene-environment interactions. Furthermore, many genes involved in ASD are also involved in intellectual disability, further underscoring their lack of specificity in phenotypic expression. We shall hereby review current knowledge on the genetic basis of ASD, spanning genetic/genomic syndromes associated with autism, monogenic forms due to copy number variants (CNVs) or rare point mutations, mitochondrial forms, and polygenic autisms. Finally, the recent contributions of genome-wide association and whole exome sequencing studies will be highlighted.

Keywords: Asperger syndrome; Autistic disorder; Chromosomal abnormality; Copy number variant; Genome-wide association; Whole exome sequencing.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Child
  • Child Development Disorders, Pervasive / genetics*
  • DNA Copy Number Variations
  • Gene-Environment Interaction*
  • Genetic Predisposition to Disease*
  • Genome, Human
  • Genotype
  • Humans
  • Phenotype