The complex genetics in autism spectrum disorders

Sci China Life Sci. 2015 Oct;58(10):933-45. doi: 10.1007/s11427-015-4893-5.

Abstract

Autism spectrum disorders (ASD) are a pervasive neurodevelopmental disease characterized by deficits in social interaction and nonverbal communication, as well as restricted interests and stereotypical behavior. Genetic changes/heritability is one of the major contributing factors, and hundreds to thousands of causative and susceptible genes, copy number variants (CNVs), linkage regions, and microRNAs have been associated with ASD which clearly indicates that ASD is a complex genetic disorder. Here, we will briefly summarize some of the high-confidence genetic changes in ASD and their possible roles in their pathogenesis.

Keywords: autism spectrum disorders; causative genes; copy number variants; genetics.

Publication types

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

MeSH terms

  • Autism Spectrum Disorder / genetics*
  • DNA Copy Number Variations
  • Humans
  • Neurodegenerative Diseases / genetics