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Genetic and Epigenetic Mechanisms in Growth and Neurodevelopmental Disorders
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Genetic and Epigenetic Mechanisms in Growth and 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: closed (20 August 2025) | Viewed by 4412

Special Issue Editor

Dr. Mara Giordano

E-Mail Website
Guest Editor
Department of Health Sciences, Università del Piemonte Orientale, 28100 Novara, Italy
Interests: genetics of mendelian disorders; molecular diagnostics of neurodevelopmental and growth disorders; pituitary hormone deficiency; kidney genetics diseases; hereditary cancer syndromes
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Large-scale genomic studies have significantly enhanced our understanding of the genetic landscape associated with various growth and skeletal disorders, as well as neurodevelopmental conditions such as autism spectrum disorders (ASDs), intellectual disabilities, and epilepsy, particularly in pediatric populations. The elucidation of the role of pathogenic variants that disrupt normal brain development and the intricate network of genes regulating growth has opened new avenues for clinical application, particularly for molecular diagnosis and treatment in children. The identification of specific genetic variants allows for more targeted and personalized interventions. Additionally, epigenetic modifications are key regulators of a multitude of biological functions involved in both growth and neurodevelopment. The unique episignatures exhibited by certain genetic syndromes could help in diagnosing conditions that might be otherwise challenging.

In this Special Issue, we will publish research and perspectives covering the genetic and epigenetic mechanisms involved in growth and neurodevelopmental diseases.

We kindly encourage colleagues that are involved in these fields to contribute high-quality review articles, research articles, and communications to this Special Issue. Potential topics include the following, among others:

  • Insights into the genetic alterations and molecular pathways involved in skeletal and growth disorders.
  • Identification of the genetic factors contributing to the onset and progression of neurodevelopmental disorders.
  • Studies focusing on the functional implications of genetic variants associated with growth and neurodevelopmental disorders, including their pathogenic roles and therapeutic potential.
  • Investigations into the epigenetic landscapes of genetic syndromes, highlighting the role of DNA methylation, histone modification, and other epigenetic factors in disease manifestation and progression.

Dr. Mara Giordano
Guest Editor

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 100 words) can be sent to the Editorial Office for announcement on this website.

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

  • growth defects
  • intellectual disability
  • epilepsy
  • autism spectrum disorders
  • epigenetic variations
  • copy number variations
  • next generation sequencing

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Published Papers (3 papers)

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Research

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15 pages, 3830 KiB  
Article
ZNF496 as Candidate Gene for Neurodevelopmental Disorders: Identification of a Pathogenic De Novo Frameshift Variant
by Francesco Calì, Miriam Virgillito, Simone Treccarichi, Antonino Musumeci, Pinella Failla, Carla Papa, Rosanna Galati Rando, Concetta Federico, Salvatore Saccone and Mirella Vinci
Int. J. Mol. Sci. 2025, 26(15), 7586; https://doi.org/10.3390/ijms26157586 - 5 Aug 2025
Viewed by 356
Abstract
Zinc finger proteins are frequently implicated in a wide range of neurodevelopmental disorders (NDDs). In this study, we report a case of mild intellectual disability (ID), global developmental delay (GDD), and developmental coordination disorder (DCD) in an individual with unaffected parents. Trio-based whole-exome [...] Read more.
Zinc finger proteins are frequently implicated in a wide range of neurodevelopmental disorders (NDDs). In this study, we report a case of mild intellectual disability (ID), global developmental delay (GDD), and developmental coordination disorder (DCD) in an individual with unaffected parents. Trio-based whole-exome sequencing (WES) identified a de novo variant (c.1530dup, p.Glu511ArgfsTer16) in the ZNF496 gene of the proband. According to ACMG guidelines, this novel variant is classified as pathogenic. It creates a frameshift that introduces a premature stop codon, resulting in a truncated protein of 525 amino acids (compared to the wild-type 587 residues). Notably, NMDEscPredictor analysis predicted that the transcript escapes nonsense-mediated decay (NMD) despite the frameshift. Computational analyses suggest the potential pathogenetic effects of the identified variant. As documented, ZNF496 interacts with JARID2, a gene associated with NDDs, ID and facial dysmorphism (MIM: #620098). In silico analyses suggest that the identified mutation disrupts this interaction by deleting ZNF496’s C2H2 domain, potentially dysregulating JARID2 target genes. To our knowledge, this is the first reported association between ZNF496 and NDDs, and the variant has been submitted to the ClinVar database (SCV006100880). Functional studies are imperative to validate ZNF496’s role in NDDs and confirm the mutation’s impact on ZNF496-JARID2 interactions. Full article
(This article belongs to the Special Issue Genetic and Epigenetic Mechanisms in Growth and Neurodevelopmental Disorders)
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Review

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20 pages, 2370 KiB  
Review
Clusterin Regulates the Mechanisms of Neuroinflammation and Neuronal Circuit Impairment in Alzheimer’s Disease
by Yihang Yu, Chunjian Wang, Binbin Wang, Xuelin Wang, Qain Zhao, Yan Yan and Xiaoyun Liu
Int. J. Mol. Sci. 2025, 26(15), 7271; https://doi.org/10.3390/ijms26157271 - 28 Jul 2025
Viewed by 614
Abstract
Alzheimer’s disease (AD) is a neurodegenerative disease with a multifaceted pathogenesis, which remains elusive, seriously affecting the quality of life of elderly patients and placing a heavy burden on affected individuals, their families, and society. As third-party synapses in brain networks, astrocytes play [...] Read more.
Alzheimer’s disease (AD) is a neurodegenerative disease with a multifaceted pathogenesis, which remains elusive, seriously affecting the quality of life of elderly patients and placing a heavy burden on affected individuals, their families, and society. As third-party synapses in brain networks, astrocytes play an important role in maintaining the normal function of neural networks, which contribute to the abnormal function of networks in AD. In recent years, numerous studies have shown that clusterin, a protein expressed by astrocytes, can participate in the progression of AD. Clusterin plays a significant role in many pathological processes of AD, such as lipid metabolism, AD pathological features, the imbalance in neural circuit excitatory inhibition, and neuroinflammation. Therefore, delving deeper into the association between clusterin and AD will help us to understand the mechanisms of disease better and provide a theoretical basis for early diagnosis and the development of treatment strategies for AD. Full article
(This article belongs to the Special Issue Genetic and Epigenetic Mechanisms in Growth and Neurodevelopmental Disorders)
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34 pages, 865 KiB  
Review
Macrocephaly and Finger Changes: A Narrative Review
by Cecilia Lazea, Romana Vulturar, Adina Chiș, Svetlana Encica, Melinda Horvat, Cristina Belizna and Laura-Otilia Damian
Int. J. Mol. Sci. 2024, 25(10), 5567; https://doi.org/10.3390/ijms25105567 - 20 May 2024
Cited by 1 | Viewed by 2893
Abstract
Macrocephaly, characterized by an abnormally large head circumference, often co-occurs with distinctive finger changes, presenting a diagnostic challenge for clinicians. This review aims to provide a current synthetic overview of the main acquired and genetic etiologies associated with macrocephaly and finger changes. The [...] Read more.
Macrocephaly, characterized by an abnormally large head circumference, often co-occurs with distinctive finger changes, presenting a diagnostic challenge for clinicians. This review aims to provide a current synthetic overview of the main acquired and genetic etiologies associated with macrocephaly and finger changes. The genetic cause encompasses several categories of diseases, including bone marrow expansion disorders, skeletal dysplasias, ciliopathies, inherited metabolic diseases, RASopathies, and overgrowth syndromes. Furthermore, autoimmune and autoinflammatory diseases are also explored for their potential involvement in macrocephaly and finger changes. The intricate genetic mechanisms involved in the formation of cranial bones and extremities are multifaceted. An excess in growth may stem from disruptions in the intricate interplays among the genetic, epigenetic, and hormonal factors that regulate human growth. Understanding the underlying cellular and molecular mechanisms is important for elucidating the developmental pathways and biological processes that contribute to the observed clinical phenotypes. The review provides a practical approach to delineate causes of macrocephaly and finger changes, facilitate differential diagnosis and guide for the appropriate etiological framework. Early recognition contributes to timely intervention and improved outcomes for affected individuals. Full article
(This article belongs to the Special Issue Genetic and Epigenetic Mechanisms in Growth and Neurodevelopmental Disorders)
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