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Genetic Basis of Autism Spectrum Disorder
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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: 20 July 2025 | Viewed by 4464

Special Issue Editors

Dr. Elisabetta Bolognesi

E-Mail Website
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
Dr. Franca Rosa Guerini

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 Rosa 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

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Published Papers (2 papers)

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14 pages, 2345 KiB  
Article
HLA-A, -B, -C and -DRB1 Association with Autism Spectrum Disorder Risk: A Sex-Related Analysis in Italian ASD Children and Their Siblings
by Franca Rosa Guerini, Elisabetta Bolognesi, Martina Maria Mensi, Michela Zanette, Cristina Agliardi, Milena Zanzottera, Matteo Chiappedi, Silvia Annunziata, Francisco García-García, Anna Cavallini and Mario Clerici
Int. J. Mol. Sci. 2024, 25(18), 9879; https://doi.org/10.3390/ijms25189879 - 12 Sep 2024
Viewed by 1130
Abstract
Autism Spectrum disorders (ASD) are diagnosed more often in males than in females, by a ratio of about 3:1; this is likely to be due to a difference in risk burden between the sexes and/or to “compensatory skills” in females, that may delay [...] Read more.
Autism Spectrum disorders (ASD) are diagnosed more often in males than in females, by a ratio of about 3:1; this is likely to be due to a difference in risk burden between the sexes and/or to “compensatory skills” in females, that may delay the diagnosis of ASD. Identifying specific risk factors for ASD in females may be important in facilitating early diagnosis. We investigated whether HLA- class I: -A, -B, -C and class II -DRB1 alleles, which have been suggested to play a role in the development of ASD, can be considered as sex-related risk/protective markers towards the ASD. We performed HLA allele genotyping in 178 Italian children with ASD, 94 healthy siblings, and their parents. HLA allele distribution was compared between children with ASD, sex-matched healthy siblings, and a cohort of healthy controls (HC) enrolled in the Italian bone marrow donor registry. Allele transmission from parents to children with ASD and their siblings was also assessed. Our findings suggest that HLA-A*02, B*38, and C*12 alleles are more frequently carried by females with ASD compared to both HC and healthy female siblings, indicating these alleles as potential risk factors for ASD in females. Conversely, the HLA-A*03 allele was more commonly transmitted to healthy female siblings, suggesting it might have a protective effect. Additionally, the HLA-B*44 allele was found to be more prevalent in boys with ASD, indicating it is a potential risk factor for male patients. This is the first Italian study of sex-related HLA association with ASD. If confirmed, these results could facilitate early ASD diagnosis in female patients, allowing earlier interventions, which are crucial in the management of neurodevelopmental disorders. Full article
(This article belongs to the Special Issue Genetic Basis of Autism Spectrum Disorder)
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Review

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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
Cited by 3 | Viewed by 2663
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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