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Molecular Genetics and Genomics of Neurodevelopmental Disorders
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Molecular Genetics and Genomics of Neurodevelopmental Disorders

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 2026 | Viewed by 1871

Special Issue Editors

Dr. Elisabetta Bolognesi

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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
Special Issues, Collections and Topics in MDPI journals
Dr. Franca Rosa Guerini

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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,

Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), intellectual disability (ID), and a range of rare syndromic conditions, represent a major public health challenge due to their early onset and lifelong impact. In recent years, advances in genomic technologies, such as next-generation sequencing, genome-wide association studies (GWAS), and epigenomic profiling, have revolutionized our understanding of the complex genetic architecture underlying these disorders. This Special Issue focuses on the latest developments in the genetics of NDDs, encompassing both common and rare variants, de novo mutations, gene–environment interactions, and epigenetic modifications. We welcome original research articles and comprehensive reviews highlighting novel candidate genes, pathogenic mechanisms, and translational approaches. We also welcome studies leveraging artificial intelligence and machine learning approaches to uncover hidden patterns in multi-omic data and to support the predictive modelling of neurodevelopmental outcomes. By integrating findings from genetics, neuroscience, and clinical research, this Special Issue aims to highlight novel insights into disease mechanisms and support the development of early diagnostics, targeted interventions, and precision medicine approaches tailored to individual genetic profiles.

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

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • neurodevelopmental disorders
  • genetics
  • molecular biology
  • biomarkers
  • epigenetics
  • precision medicine
  • rare variants
  • common variants
  • artificial intelligence
  • machine learning

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Published Papers (3 papers)

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Research

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18 pages, 3278 KB  
Article
The Effect of SERM/CB2 Receptor Modulators on Repetitive Behaviours in Juvenile and Young Adult Mice May Have Implications for Tourette Syndrome Treatment
by Victoria Gorberg, Peter McCaffery and Sharon Anavi-Goffer
Int. J. Mol. Sci. 2026, 27(3), 1181; https://doi.org/10.3390/ijms27031181 - 24 Jan 2026
Cited by 1 | Viewed by 423
Abstract
Tourette syndrome (TS) is a neurodevelopmental disorder, with a male-to-female ratio of approximately 3:1, characterised by involuntary tics, frequently comorbid with conditions such as obsessive–compulsive disorder (OCD). Some patients exhibit limited responsiveness to standard medications, necessitating alternative therapeutic strategies. Clomiphene, a selective oestrogen [...] Read more.
Tourette syndrome (TS) is a neurodevelopmental disorder, with a male-to-female ratio of approximately 3:1, characterised by involuntary tics, frequently comorbid with conditions such as obsessive–compulsive disorder (OCD). Some patients exhibit limited responsiveness to standard medications, necessitating alternative therapeutic strategies. Clomiphene, a selective oestrogen receptor modulator (SERM), emerged as a potential candidate. However, raloxifene and bazedoxifene, which exhibit distinct chemical structures from clomiphene, present dual modulation not only as oestrogen receptor modulators but also as inverse agonists of the cannabinoid CB2 receptor. The present study compared the efficacy of clomiphene, raloxifene, and bazedoxifene in alleviating TS/OCD-like behaviours in mice. The findings revealed dose, sex, and age differences in the effects of raloxifene, and to a lesser extent of bazedoxifene, demonstrating potential therapeutic benefit for treating TS/OCD-like behaviours. The effects of raloxifene were compared in the presence of 2,5-dimethoxy-4-iodoamphetamine (DOI)-induced or SR141716A-induced motor-like tics, premonitory urges-induced, and OCD-like behaviours in mice. DOI-induced juvenile male and female mice responded to raloxifene, while only adolescent DOI-induced females responded to raloxifene. These results suggest that SERM drugs that are also CB2 receptor antagonists/inverse-agonists may be a new class of drugs to reduce motor tics and OCD symptoms in patients with TS/OCD. Full article
(This article belongs to the Special Issue Molecular Genetics and Genomics of Neurodevelopmental Disorders)
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16 pages, 539 KB  
Article
Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children
by Giancarlo Mancuso, Laura Serventi, Chiara Cocco, Francesco Lai, Consolata Soddu, Monica Marica, Caterina Mereu, Michela Lorrai, Gaia Maria Tosone, Federica Cannas, Giulia Nutile, Matteo Floris, Salvatore Savasta and Sabrina Giglio
Int. J. Mol. Sci. 2026, 27(2), 964; https://doi.org/10.3390/ijms27020964 - 18 Jan 2026
Viewed by 797
Abstract
Neurodevelopmental disorders (NDDs) are a heterogeneous group of conditions characterised by impairments in cognition, motor function, behaviour, and social interaction. Their genetic basis is highly diverse, and next-generation sequencing has become central to improving diagnostic yield. We retrospectively analysed 94 paediatric patients (0–18 [...] Read more.
Neurodevelopmental disorders (NDDs) are a heterogeneous group of conditions characterised by impairments in cognition, motor function, behaviour, and social interaction. Their genetic basis is highly diverse, and next-generation sequencing has become central to improving diagnostic yield. We retrospectively analysed 94 paediatric patients (0–18 years) with NDDs referred to the Paediatric and Rare Diseases Clinic, Microcitemico Hospital “A. Cao,” between January 2019 and July 2024. Each patient underwent detailed clinical evaluation and whole-exome sequencing (WES). Variants were prioritised according to ACMG guidelines. Gene burden analysis of rare predicted loss-of-function variants was performed using the Cohort Allelic Sums Test to detect enrichment in NDD cases relative to controls. WES identified 12 pathogenic variants, 16 likely pathogenic variants, and 10 variants of uncertain significance. Autosomal dominant disorders were the most frequent (n = 35 patients), while autosomal recessive and X-linked dominant conditions were identified in a single case each. The findings of this study further highlight the importance of WES in identifying novel genetic variants and in providing explanations for previously unexplained NDD cases. Moreover, the Cohort Allelic Sums Test (CAST) demonstrated that rare variants are enriched in genes implicated in neuronal development in affected individuals. Full article
(This article belongs to the Special Issue Molecular Genetics and Genomics of Neurodevelopmental Disorders)
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Review

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33 pages, 6472 KB  
Review
Unraveling the Genetic and Molecular Architecture of Autism Spectrum Disorder: Implications for Clinical Genetics and Genomic Diagnostics
by Simone Treccarichi, Mirella Vinci, Miriam Virgillito, Antonino Musumeci, Francesca Bruno, Carla Papa, Rosanna Galati Rando, Pietro Marano, Donatella Greco, Antonio Fallea, Desiree Brancato, Siria Calì, Gresheen Garcia, Concetta Federico, Salvatore Saccone and Francesco Calì
Int. J. Mol. Sci. 2026, 27(7), 3278; https://doi.org/10.3390/ijms27073278 - 4 Apr 2026
Viewed by 287
Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental condition that occurs in early childhood, characterized by a broad range of clinical manifestations and impairments in social communication. It represents one of the most prevalent neurodevelopmental disorders, affecting approximately 1% of the general population. The [...] Read more.
Autism spectrum disorder (ASD) is a neurodevelopmental condition that occurs in early childhood, characterized by a broad range of clinical manifestations and impairments in social communication. It represents one of the most prevalent neurodevelopmental disorders, affecting approximately 1% of the general population. The phenotypic heterogeneity of ASD arises from different genetic causes, including chromosomal abnormalities, copy number variants (CNVs), and single-nucleotide variants (SNVs), which may occur as de novo or inherited events. Moreover, the polygenic and multifactorial nature of ASD, together with epigenetic regulation and environmental influences, contributes substantially to its complex genetic architecture. Molecular diagnosis remains challenging and relies on multiple genomic approaches, such as array comparative genomic hybridization (array-CGH), whole-exome sequencing (WES), and whole-genome sequencing (WGS); however, the diagnostic yields of these methods remain limited, reflecting the complexity of ASD’s genetic architecture. Notably, ASD-associated genes converge on key biological pathways, particularly those involved in transcriptional regulation, chromatin remodeling, synaptic function, and neuronal signaling. These include well-established risk genes such as CHD8, ADNP, ARID1B, SHANK3, SYNGAP1, SCN2A, GRIN2B, FOXP1, and DYRK1A, among others. This review summarizes the current knowledge on the genetic basis of ASD, highlighting key aspects of its complex genetic architecture. By integrating evidence from major clinical and research databases, it provides a clearer understanding of the underlying mechanisms, supporting improved diagnosis and future research and therapeutic strategies. Full article
(This article belongs to the Special Issue Molecular Genetics and Genomics of Neurodevelopmental Disorders)
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