Review Analysis of Fragile X Syndrome: From Molecular Insights to Clinical and Ethical Challenges

Fragile X Syndrome (FXS) is the most prevalent inherited cause of intellectual disability and a significant monogenic factor in autism spectrum disorders. This X - linked condition results from the silencing of the FMR1 gene due to abnormal CGG trinucleotide repeat expansions, leading to a deficiency in fragile X mental retardation protein (FMRP). The absence of FMRP disrupts synaptic development and plasticity, causing cognitive, developmental, behavioral, and physical challenges. Advances in molecular diagnostics, such as long - read sequencing, have improved the precision of identifying these mutations, although widespread clinical implementation remains limited. Clinically, FXS is characterized by a spectrum of symptoms, including intellectual disability, hyperactivity, anxiety, and distinct physical traits like a long face and prominent ears. Males are typically more severely affected than females due to their single X chromosome. Current therapeutic approaches focus on managing symptoms through pharmacological and behavioral interventions, while emerging therapies explore gene reactivation, protein replacement, and targeting disrupted pathways like mGluR5 and PI3K/AKT/mTOR. Despite scientific progress, challenges persist in diagnosis and treatment, particularly in low - resource settings. Ethical dilemmas arise regarding genetic screening, especially for newborns, raising concerns about consent, stigma, and societal discrimination. Recent research leveraging advanced animal models and patient - derived organoids provides deeper insights into FXS pathophysiology, offering hope for targeted and potentially curative interventions. This review underscores the need for a multidisciplinary approach to address the complexities of FXS, emphasizing early diagnosis, equitable access to treatments, and ethical considerations in genetic technologies. Collaborative research and healthcare initiatives are vital to improving outcomes and quality of life for individuals with FXS and their families.