Genetic heterogeneity in autism: From single gene to a pathway perspective.
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.
Queensland Brain Institute, University of Queensland, Building 79, St Lucia, 4072, Brisbane, QLD, Australia.
Joon Yong
JY
An
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.
Charles
C
Claudianos
D000067877:Autism Spectrum Disorder; D001321:Autistic Disorder; D018740:Genetic Heterogeneity; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans
Autism spectrum disorders (ASD); Brain gene expression; Genome sequencing; Neurodevelopment; Systems biology