Genetic Insights into Neurodevelopmental Disorders

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Neurogenomics".

Deadline for manuscript submissions: 15 August 2025 | Viewed by 890

Special Issue Editor


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Guest Editor
Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands
Interests: functional genomics of rare diseases; next-generation sequencing; intellectual disability; neurodevelopmental disorders

Special Issue Information

Dear Colleagues,

Neurodevelopmental disorders (NDDs) encompass a diverse group of conditions affecting cognitive, behavioral, and motor functions, often with early childhood onset. Recent advances in genetics, particularly through next-generation sequencing (NGS), have revealed that many NDDs are linked to mutations in both coding and non-coding regions of the genome. Variants in genes involved in synaptic signaling, neuronal migration, chromatin remodeling, and brain development pathways have been identified as key contributors. Additionally, non-coding elements like enhancers and long non-coding RNAs (lncRNAs) are being increasingly investigated for their roles in gene regulation during neurodevelopment. These insights not only deepen the understanding of the genetic architecture underlying NDDs, but also hold promise for improved diagnostics and potential targeted therapies, fostering a personalized medicine approach to treatment.  

The Special Issue "Genetic Insights into Neurodevelopmental Disorders" invites research papers that explore novel findings on the genetic and/or epigenetic mechanisms underlying neurodevelopmental disorders, as well as studies investigating other molecular pathways that contribute to the development of these conditions.

Dr. Andrea Conidi
Guest Editor

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Keywords

  • neurodevelopmental disorders
  • rare diseases
  • chromatin architecture
  • iPSCs and organoids
  • transcription factors

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Published Papers (1 paper)

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Review

21 pages, 1323 KiB  
Review
Autism Spectrum Disorder: Genetic Mechanisms and Inheritance Patterns
by Ilaria La Monica, Maria Rosaria Di Iorio, Antonia Sica, Francesca Rufino, Chiara Sotira, Lucio Pastore and Barbara Lombardo
Genes 2025, 16(5), 478; https://doi.org/10.3390/genes16050478 - 23 Apr 2025
Viewed by 590
Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that first develops in early childhood and is characterized by restricted interests, activities, and behaviors, as well as difficulties with social interactions and communication. ASD arises from a complex interaction between environmental factors and genetic [...] Read more.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that first develops in early childhood and is characterized by restricted interests, activities, and behaviors, as well as difficulties with social interactions and communication. ASD arises from a complex interaction between environmental factors and genetic inheritance, influenced by epigenetic mechanisms. With an estimated heritability of 70–90%, ASD is highly familial, indicating that genetic factors play a significant role in its development. This shows how hundreds of genetic variants contribute to ASD, whose risk effects are highly variable and are often related to other conditions; these genetic alterations are at different levels, which include single gene mutations, monogenic disorders, genomic variants, and chromosomal abnormalities. Copy number variants (CNVs) appear to contribute significantly to understanding the pathogenesis of this complex disease. In some cases, single CNVs in genomic DNA are pathogenic and causative, supporting the hypothesis that some sporadic cases of ASD may result from rare mutations with significant clinical impact. However, in many cases, there are common genomic variants that increase the risk of developing ASD but are insufficient by themselves to determine an ASD phenotype, and rare genomic variants, of various sizes, inherited from a parent or de novo, that can be associated with the ASD phenotype. Therefore, the aim of this review is to deepen the concept of ASD inheritance through the two-hit theory of CNVs, in which the concomitant presence of two alterations could determine the clinical phenotypes, the concept of incomplete penetrance for inherited CNVs with pathogenic clinical significance, and the presence of compound heterozygosity. These aspects represent important mechanisms underlying the pathogenesis of autism, contributing to a better elucidation for the understanding of the genetic contribution to the ASD phenotype. Full article
(This article belongs to the Special Issue Genetic Insights into Neurodevelopmental Disorders)
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