Complex genomic variants contribute toward the genetic architecture of autism spectrum disorder

Psychiatr Genet. 2016 Apr;26(2):95-6. doi: 10.1097/YPG.0000000000000120.

Abstract

Genetic factor plays a critical role in the etiology of autism spectrum disorder (ASD). Both common variants with a small effect and rare mutations with a large effect contribute toward the genetic basis of ASD, showing the high genetic heterogeneity of ASD. Genomic rearrangements account for around 10-15% of its genetic landscape. However, they are highly individualized and each of them has a very rare frequency.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Autism Spectrum Disorder / genetics*
  • Carrier Proteins / genetics*
  • Cell Adhesion Molecules, Neuronal / genetics*
  • Genetic Heterogeneity
  • Genetic Predisposition to Disease
  • Humans
  • Introns
  • Male
  • Membrane Proteins / genetics*
  • Mutation

Substances

  • Carrier Proteins
  • Cell Adhesion Molecules, Neuronal
  • Membrane Proteins
  • NLGN4X protein, human
  • gephyrin