Genetic Basis of Autism Spectrum Disorder

Dear Colleagues,

Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) affecting approximately 1 in 59 individuals worldwide, indexed by an estimated heritability of 64–91%. Although autism is characterized by difficulty in social interactions and a tendency toward repetitive and/or stereotyped behaviors, ASD is highly heterogeneous with different degrees of severity. Nowadays, there is no unifying theory that can explain the syndrome according to a linear cause-effect model. Genetic variation include single gene disorders, copy number variants (CNVs), inherited and de novo rare variants, and common sequence variants, whose differences lead to genetic heterogeneity. In the literature, more than 1000 genes have been associated with it: some of these genes are involved in the development and regulation of neural circuits, i.e., neuronal connectivity and synaptic plasticity, however, they do not fully explain the complexity of ASD. This points out the necessity to investigate the role played by additional gene families and their related pathways in ASD. Identifying new genes will allow to better understand the complexity of ASD, and characterize different phenotypes to achieve an early diagnosis and management for the benefit of patients and their families.

Dr. Elisabetta Bolognesi 
Dr. Franca R. Guerini
Guest Editors

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• autism spectrum disorder (ASD)
• neurodevelopmental disorder (NDD)
• genetic causes of autism
• genetic polymorphism
• gene variant
• genome-wide association studies
• single nucleotide
• polymorphism
• precision medicine
• genetic mutations
• diagnostic marker