IMR Press / FBE / Volume 8 / Issue 3 / DOI: 10.2741/E776

Frontiers in Bioscience-Elite (FBE) is published by IMR Press from Volume 13 Issue 2 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with Frontiers in Bioscience.

Open Access Review

Towards understanding the genetics of Autism

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1 Department of Biological and Environmental Sciences, College of Arts & Sciences, Qatar University, Qatar
2 Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, PO Box 35, PC 123, Al Khoud, Sultanate of Oman

*Author to whom correspondence should be addressed.

Academic Editor: Allal Ouhtit

Front. Biosci. (Elite Ed) 2016, 8(3), 412–426; https://doi.org/10.2741/E776
Published: 1 June 2016
(This article belongs to the Special Issue Oxidative stress and cardiovascular diseases)
Abstract

Autism spectrum disorder (ASD) includes a group of neurodevelopmental disorders that affect communication skills, social interaction and intellectual ability. Despite evidence suggesting a strong genetic link with ASD, the genetic determinant remains unclear. Early studies focusing on candidate genes have shown that several genes associated with neuronal synaptic function are involved in development of ASD. Linkage studies have identified several single nucleotide polymorphisms (SNPs) associated with ASD, and genome-wide association studies have implicated several loci, but failed to recognize a single specific locus with strong significance, indicating heterogeneity in ASD genetic determinants. Detection of de novo copy number variations and single nucleotide variants in several ASD probands has confirmed the genetic heterogeneity of the disease. More interestingly, next generation sequencing approaches have recently identified novel candidate genes and several point mutations in sporadic ASDs, thus increasing our knowledge of ASD etiology. The current review summarizes the findings of recent studies using genetic and genomic approaches to understand the underlying molecular mechanisms of ASD.

Keywords
Autism Spectrum Disorder
Genetics
Genomics
Review
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