Genetic heterogeneity in autism: From single gene to a pathway perspective

Joon Yong An; Charles Claudianos

doi:10.1016/j.neubiorev.2016.06.013

Genetic heterogeneity in autism: From single gene to a pathway perspective

Neurosci Biobehav Rev. 2016 Sep:68:442-453. doi: 10.1016/j.neubiorev.2016.06.013. Epub 2016 Jun 16.

Authors

Joon Yong An¹, Charles Claudianos²

Affiliations

¹ Queensland Brain Institute, University of Queensland, Building 79, St Lucia, 4072, Brisbane, QLD, Australia.
² Queensland Brain Institute, University of Queensland, Building 79, St Lucia, 4072, Brisbane, QLD, Australia; Monash Institute of Cognitive and Clinical Neuroscience, Department of Anatomy and Developmental Biology, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, VIC 3800, Australia. Electronic address: charles.claudianos@monash.edu.

PMID: 27317861
DOI: 10.1016/j.neubiorev.2016.06.013

Abstract

The extreme genetic heterogeneity of autism spectrum disorder (ASD) represents a major challenge. Recent advances in genetic screening and systems biology approaches have extended our knowledge of the genetic etiology of ASD. In this review, we discuss the paradigm shift from a single gene causation model to pathway perturbation model as a guide to better understand the pathophysiology of ASD. We discuss recent genetic findings obtained through next-generation sequencing (NGS) and examine various integrative analyses using systems biology and complex networks approaches that identify convergent patterns of genetic elements associated with ASD.

Keywords: Autism spectrum disorders (ASD); Brain gene expression; Genome sequencing; Neurodevelopment; Systems biology.

Publication types

Review

MeSH terms

Autism Spectrum Disorder
Autistic Disorder
Genetic Heterogeneity*
High-Throughput Nucleotide Sequencing
Humans