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Review Article

Exp Neurobiol 2015; 24(4): 257-272

Published online December 30, 2015

© The Korean Society for Brain and Neural Sciences

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

Heejeong Yoo*

Department of Psychiatry, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam 13620, Korea

Correspondence to: *To whom correspondence should be addressed.
TEL: 82-31-787-7436, FAX: 82-31-787-4058

Received: October 26, 2015; Revised: December 2, 2015; Accepted: December 2, 2015


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.

Keywords: Autism spectrum disorder, Syndromic autism, de novo mutations, Genetic diagnosis