Exp Neurobiol.  2015 Dec;24(4):257-272. 10.5607/en.2015.24.4.257.

Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications

Affiliations
  • 1Department of Psychiatry, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam 13620, Korea. hjyoo@snu.ac.kr

Abstract

Autism spectrum disorder (ASD) is one of the most complex behavioral disorders with a strong genetic influence. The objectives of this article are to review the current status of genetic research in ASD, and to provide information regarding the potential candidate genes, mutations, and genetic loci possibly related to pathogenesis in ASD. Investigations on monogenic causes of ASD, candidate genes among common variants, rare de novo mutations, and copy number variations are reviewed. The current possible clinical applications of the genetic knowledge and their future possibilities are highlighted.

Keyword

Autism spectrum disorder; Syndromic autism; de novo mutations; Genetic diagnosis

MeSH Terms

Autistic Disorder*
Child
Autism Spectrum Disorder*
Genetic Loci
Genetic Research
Genetics*
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