Kabuki syndrome (KS) is a rare congenital disorder characterized by distinctive 
facies, postnatal growth deficiency, cardiac defects and skeletal anomalies. 
Studies have determined that pathogenic variants of the lysine-specific 
methyltransferase 2D (KMT2D) and lysine-specific demethylase 6A (KDM6A) genes 
are the major causes of KS. The two genes encode different histone-modifying 
enzymes that are found in the same protein complex that is critical for cell 
differentiation during development. Here we report the results from 
next-generation sequencing of genomic DNA from 13 patients who had a clinical 
diagnosis of KS based on facial dysmorphism and other KS-specific cardinal 
phenotypes. Nine of the 13 patients were confirmed to be carrying heterozygous 
pathogenic KMT2D variants, seven of which were truncating and two were missense 
substitutions. Overall, we uncovered 11 novel variants - nine in KMT2D and two 
in KDM6A. Seven of the novel variants (all KMT2D) were likely causative of the 
KS phenotype. Our study expands the number of naturally occurring KMT2D and 
KDM6A variants. The discovery of novel pathogenic variants will add to the 
knowledge on disease-causing variants and the relevance of missense variants in 
KS.