Searching for convergent pathways in autism spectrum disorders: insights from human brain transcriptome studies

Cell Mol Life Sci. 2016 Dec;73(23):4517-4530. doi: 10.1007/s00018-016-2304-0. Epub 2016 Jul 12.


Autism spectrum disorder (ASD) is one of the most heritable neuropsychiatric conditions. The complex genetic landscape of the disorder includes both common and rare variants at hundreds of genetic loci. This marked heterogeneity has thus far hampered efforts to develop genetic diagnostic panels and targeted pharmacological therapies. Here, we give an overview of the current literature on the genetic basis of ASD, and review recent human brain transcriptome studies and their role in identifying convergent pathways downstream of the heterogeneous genetic variants. We also discuss emerging evidence on the involvement of non-coding genomic regions and non-coding RNAs in ASD.

Keywords: Autism; Brain; Transcriptome.

Publication types

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

MeSH terms

  • Autism Spectrum Disorder / genetics*
  • Brain / metabolism*
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Humans
  • RNA, Untranslated / genetics
  • RNA, Untranslated / metabolism
  • Transcriptome / genetics*


  • RNA, Untranslated