Loss of function of Kmt2d, a gene mutated in Kabuki syndrome, affects heart development in Xenopus laevis

Abstract

Kabuki syndrome is a haploinsufficient congenital multi‐organ malformation syndrome, which frequently includes severe heart defects. Mutations in the histone H3K4 methyltransferase KMT2D have been identified as the main cause of Kabuki syndrome, however, the role of KMT2D in heart development remains to be characterized.