alexa The genetic landscapes of autism spectrum disorders.


Autism-Open Access

Author(s): Huguet G, Ey E, Bourgeron T

Abstract Share this page

Abstract The autism spectrum disorders (ASD) are characterized by impairments in social interaction and stereotyped behaviors. For the majority of individuals with ASD, the causes of the disorder remain unknown; however, in up to 25\% of cases, a genetic cause can be identified. Chromosomal rearrangements as well as rare and de novo copy-number variants are present in ∼10-20\% of individuals with ASD, compared with 1-2\% in the general population and/or unaffected siblings. Rare and de novo coding-sequence mutations affecting neuronal genes have also been identified in ∼5-10\% of individuals with ASD. Common variants such as single-nucleotide polymorphisms seem to contribute to ASD susceptibility, but, taken individually, their effects appear to be small. Despite a heterogeneous genetic landscape, the genes implicated thus far-which are involved in chromatin remodeling, metabolism, mRNA translation, and synaptic function-seem to converge in common pathways affecting neuronal and synaptic homeostasis. Animal models developed to study these genes should lead to a better understanding of the diversity of the genetic landscapes of ASD. This article was published in Annu Rev Genomics Hum Genet and referenced in Autism-Open Access

Recommended Conferences

  • Neurology and Neurological Disorders
    July 17-18, 2017 Chicago, USA
  • International Conference on Social Sciences & Interdisciplinary Studies
    August 07-17 London, UK
  • 3rd International Conference on Autism
    Aug 21-22, 2017 Los Angeles, USA
  • 3rd International Conference on Epilepsy and Treatment
    September 01-17 Brussels, Belgium

Relevant Topics

Peer Reviewed Journals
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version