CHARGE syndrome is a complex developmental disorder caused by mutations in the 
chromodomain helicase DNA-binding gene CHD7. Kabuki syndrome, another 
developmental disorder, is characterized by typical facial features in 
combination with developmental delay, short stature, prominent digit pads and 
visceral abnormalities. Mutations in the KMT2D gene, which encodes a H3K4 
histone methyltransferase, are the major cause of Kabuki syndrome. Here, we 
report a patient, who was initially diagnosed with CHARGE syndrome based on the 
spectrum of inner organ malformations like choanal hypoplasia, heart defect, 
anal atresia, vision problems and conductive hearing impairment. While 
sequencing and MLPA analysis of all coding exons of CHD7 revealed no pathogenic 
mutation, sequence analysis of the KMT2D gene identified the heterozygous de 
novo nonsense mutation c.5263C > T (p.Gln1755*). Thus, our patient was diagnosed 
with Kabuki syndrome. By using co-immunoprecipitation, immunohistochemistry and 
direct yeast two hybrid assays, we could show that, like KMT2D, CHD7 interacts 
with members of the WAR complex, namely WDR5, ASH2L and RbBP5. We therefore 
propose that CHD7 and KMT2D function in the same chromatin modification 
machinery, thus pointing out a mechanistic connection, and presenting a probable 
explanation for the phenotypic overlap between Kabuki and CHARGE syndromes.