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<p>Neurodevelopmental disorders (NDDs) significantly&#xa0;affect&#xa0;brain development, leading to challenges in&#xa0;communication, learning, and emotional regulation. This review examines the role of genetic factors, particularly copy number variations (CNVs), and critical structural alterations in the genome that influence&#xa0;gene dosage and biological functions. We focus on key CNV regions, including 16p11.2, 22q11.2, 1q21.1, and 15q11.2, associated with various NDDs and their impact on cognitive and behavioral outcomes. CNVs can disrupt gene function, contributing to genetic instability and dysregulated pathways in NDDs. Acknowledging limitations in current literature, such as sample size and selection bias, we emphasize the need for a larger, more diverse population and longitudinal studies. Additionally, we identify gaps in understanding genetic-environmental interactions and suggest that advanced genomic technologies could enhance research. Understanding how CNVs influence DNA repair mechanisms may lead to potential interventions to mitigate genomic instability in NDDs.</p> Graphical abstract <p></p>

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Genetic insights into neurodevelopment: the critical role of copy number variations in neurodevelopmental disorders

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年9月17日

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  • Muqtada Shaikh,
  • Gaurav Doshi

摘要

Neurodevelopmental disorders (NDDs) significantly affect brain development, leading to challenges in communication, learning, and emotional regulation. This review examines the role of genetic factors, particularly copy number variations (CNVs), and critical structural alterations in the genome that influence gene dosage and biological functions. We focus on key CNV regions, including 16p11.2, 22q11.2, 1q21.1, and 15q11.2, associated with various NDDs and their impact on cognitive and behavioral outcomes. CNVs can disrupt gene function, contributing to genetic instability and dysregulated pathways in NDDs. Acknowledging limitations in current literature, such as sample size and selection bias, we emphasize the need for a larger, more diverse population and longitudinal studies. Additionally, we identify gaps in understanding genetic-environmental interactions and suggest that advanced genomic technologies could enhance research. Understanding how CNVs influence DNA repair mechanisms may lead to potential interventions to mitigate genomic instability in NDDs.

Graphical abstract