Abstract
Autism Spectrum Disorder (ASD) comprises a heterogeneous group of neurodevelopmental disorders with a strong heritable genetic component. At present, ASD is diagnosed solely by behavioral criteria. Advances in genomic analysis have contributed to numerous candidate genes for the risk of ASD, where rare mutations and s common variants contribute to its susceptibility. Moreover, studies show rare de novo variants, copy number variation and single nucleotide polymorphisms (SNPs) also impact neurodevelopment signaling. Exploration of rare and common variants involved in common dysregulated pathways can provide new diagnostic and therapeutic strategies for ASD. Contributions of current innovative molecular strategies to understand etiology of ASD will be explored which are focused on whole exome sequencing (WES), whole genome sequencing (WGS), microRNA, long non-coding RNAs and CRISPR/Cas9 models. Some promising areas of pharmacogenomic and endophenotype directed therapies as novel personalized treatment and prevention will be discussed.
Highlights
Autism spectrum disorder (ASD) is a group of complex neurodevelopment disorders involving behavioral difficulties and developmental delays that effect social communication and interactions [1]
A large homogeneous Swedish epidemiological sample [6] showed that 14% of affected subjects carry de novo copy number variants and loss-of-function (LoF) mutations, which account for 2.6% autism liability
There are over 100 ASD candidate genes, and Supplementary Table S1 shows some 58 genes which are involved in transcription, deoxyribonucleic acid (DNA) binding, cell growth, post-synaptic density, NMDA glutamate receptor clustering and neuroprotection (Supplementary Table S2)
Summary
Autism spectrum disorder (ASD) is a group of complex neurodevelopment disorders involving behavioral difficulties and developmental delays that effect social communication and interactions [1]. The genetic heterogeneity of this syndrome has eluded researchers and clinicians to pinpoint the underlying genetic causes of impaired social interactions, restricted communications skills, and unusual repetitive behaviors. Autism is a heterogeneous disorder with a high heritability [3,4]. A meta-analysis of twin studies on ASD show high heritability for monozygotic twins (MZ), with estimates ranging between 64–91% [5]. Autism etiology has many key players, including common genetic variants, inherited gene-disruptive mutations and rare variants of large effect outside of the coding region [6,7,8]. This review will provide current information on innovative technologies like WES, WGS, non-coding RNAs, ASD models, pharmacogenomics and endophenotypes in ASD
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