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Genetic Basis of Autism Spectrum Disorder

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 31 October 2024 | Viewed by 500

Special Issue Editors


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Guest Editor
Laboratory of Molecular Medicine and Biotechnology, IRCCS Fondazione Don Carlo Gnocchi, Via Capecelatro 66, 20148 Milan, Italy
Interests: autism; neurodevelopmental disorders; genetic variants; genetic epidemiology

E-Mail Website
Guest Editor
Laboratory of Molecular Medicine and Biotechnology, IRCCS Fondazione Don Carlo Gnocchi, Via Capecelatro 66, 20148 Milan, Italy
Interests: genetics; autism; neurodegenerative disorders; Alzheimer; multiple sclerosis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

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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Keywords

  • 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

Published Papers (1 paper)

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Review

15 pages, 4663 KiB  
Review
The Importance of Large-Scale Genomic Studies to Unravel Genetic Risk Factors for Autism
by Isabella de Sousa Nóbrega, André Luíz Teles e Silva, Bruno Yukio Yokota-Moreno and Andréa Laurato Sertié
Int. J. Mol. Sci. 2024, 25(11), 5816; https://doi.org/10.3390/ijms25115816 - 27 May 2024
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Abstract
Autism spectrum disorder (ASD) is a common and highly heritable neurodevelopmental disorder. During the last 15 years, advances in genomic technologies and the availability of increasingly large patient cohorts have greatly expanded our knowledge of the genetic architecture of ASD and its neurobiological [...] Read more.
Autism spectrum disorder (ASD) is a common and highly heritable neurodevelopmental disorder. During the last 15 years, advances in genomic technologies and the availability of increasingly large patient cohorts have greatly expanded our knowledge of the genetic architecture of ASD and its neurobiological mechanisms. Over two hundred risk regions and genes carrying rare de novo and transmitted high-impact variants have been identified. Additionally, common variants with small individual effect size are also important, and a number of loci are now being uncovered. At the same time, these new insights have highlighted ongoing challenges. In this perspective article, we summarize developments in ASD genetic research and address the enormous impact of large-scale genomic initiatives on ASD gene discovery. Full article
(This article belongs to the Special Issue Genetic Basis of Autism Spectrum Disorder)
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