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<p>The essential autophagy regulator EPG5 has been implicated in a rare but severe autosomal recessive disorder known as Vici syndrome, which is characterized by multisystem involvement, including agenesis of the corpus callosum, cataracts, immunodeficiency, cardiomyopathy, and hypopigmentation. This review systematically elucidates the dual roles of EPG5 in autophagy and endocytic trafficking, comprehensively delineates the clinical manifestations of Vici syndrome, critically evaluates current therapeutic strategies, and proposes potential approaches to improve diagnosis and treatment for this debilitating disease. Furthermore, we highlight future research directions aimed at bridging molecular mechanisms with clinical translation, which may advance our understanding of the pathogenesis of Vici syndrome.</p>

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EPG5 and Vici syndrome: a review of pathogenesis, clinical features, and therapeutic advances

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月28日

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  • Xia Yang,
  • Xianglan Liu,
  • Yi Yang,
  • Qun Lu

摘要

The essential autophagy regulator EPG5 has been implicated in a rare but severe autosomal recessive disorder known as Vici syndrome, which is characterized by multisystem involvement, including agenesis of the corpus callosum, cataracts, immunodeficiency, cardiomyopathy, and hypopigmentation. This review systematically elucidates the dual roles of EPG5 in autophagy and endocytic trafficking, comprehensively delineates the clinical manifestations of Vici syndrome, critically evaluates current therapeutic strategies, and proposes potential approaches to improve diagnosis and treatment for this debilitating disease. Furthermore, we highlight future research directions aimed at bridging molecular mechanisms with clinical translation, which may advance our understanding of the pathogenesis of Vici syndrome.