Abstract
Introduction: Kabuki Syndrome (KS) is a rare genetic disorder characterized by distinctive facial features, intellectual disability, and multiple congenital anomalies. It is caused by pathogenic variants in the KMT2D and KDM6A genes. Despite its significant disease burden, there are currently no approved therapies for KS, highlighting the need for advanced research and therapeutic development. Areas covered: This review examines the use of animal models in KS research, including mice, fish, frogs, and nematodes. These models replicate key mechanistic and clinical aspects of Kabuki Syndrome, facilitating preclinical studies to demonstrate therapeutic efficacy. The literature search focused on identifying studies that utilized these models to investigate the pathophysiology of Kabuki Syndrome and evaluate potential treatments. Expert opinion: Refining animal models is essential to enhance their relevance to human disease and accelerate the development of effective therapies for Kabuki Syndrome. Insights from these models are invaluable in understanding underlying molecular mechanisms and identifying therapeutic targets. Continued research and collaboration are crucial to translating these findings into clinical practice, offering hope for future treatments.
