Kabuki Syndrome is linked to which genetic mutations?

Kabuki Syndrome is primarily associated with mutations in the KMT2D (lysine methyltransferase 2D) and KDM6A (lysine demethylase 6A) genes. These genes are crucial for various developmental processes, and mutations in either can lead to the phenotypic features observed in Kabuki Syndrome, which include distinctive facial features, skeletal abnormalities, and various other systemic issues.

KMT2D mutations are the most common cause of Kabuki Syndrome and are involved in epigenetic regulation, impacting gene expression during early development. Similarly, KDM6A also plays a role in gene regulation by modifying histones, which can influence the expression of genes necessary for normal development.

The other answer options involve genes that are not associated with Kabuki Syndrome. For instance, while EDA relates to conditions like hypohidrotic ectodermal dysplasia, it does not contribute to the genetic basis of Kabuki Syndrome. Similarly, MEFV mutations are primarily linked to familial Mediterranean fever, while PIGN and ACVRL1 are associated with different disorders. Therefore, understanding the specific roles of KMT2D and KDM6A is essential in the context of Kabuki Syndrome and highlights the importance of