Review Volume 11, Issue 22 pp 10742—10770
Association of genes with phenotype in autism spectrum disorder
- 1 Research Branch, Sidra Medicine, Doha, Qatar
- 2 Department of Psychiatry, Sidra Medicine, Doha, Qatar
- 3 Weill Cornell Medicine, Doha, Qatar
- 4 Translational Research Institute, Hamad Medical Corporation, Doha, Qatar
- 5 Center for Magnetic Resonance and Optical Imaging, Department of Radiology, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA 19104, USA
- 6 Laboratory Animal Research Center, Qatar University, Doha, Qatar
received: August 5, 2019 ; accepted: November 8, 2019 ; published: November 19, 2019 ;https://doi.org/10.18632/aging.102473
How to Cite
Copyright © 2019 Nisar et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Autism spectrum disorder (ASD) is a genetic heterogeneous neurodevelopmental disorder that is characterized by impairments in social interaction and speech development and is accompanied by stereotypical behaviors such as body rocking, hand flapping, spinning objects, sniffing and restricted behaviors. The considerable significance of the genetics associated with autism has led to the identification of many risk genes for ASD used for the probing of ASD specificity and shared cognitive features over the past few decades. Identification of ASD risk genes helps to unravel various genetic variants and signaling pathways which are involved in ASD. This review highlights the role of ASD risk genes in gene transcription and translation regulation processes, as well as neuronal activity modulation, synaptic plasticity, disrupted key biological signaling pathways, and the novel candidate genes that play a significant role in the pathophysiology of ASD. The current emphasis on autism spectrum disorders has generated new opportunities in the field of neuroscience, and further advancements in the identification of different biomarkers, risk genes, and genetic pathways can help in the early diagnosis and development of new clinical and pharmacological treatments for ASD.