Kabuki syndrome revisited
Journal of Human Genetics (2012) 57, 223–227
& 2012 The Japan Society of Human Genetics
Author: Yemisi Bokinni
Little was known about the etiology and molecular basis of Kabuki syndrome when it was first discovered in 1981. In 2010, however, researchers identified MLL2 to be the causative gene in the majority of cases. Further, in 2012, scientists discovered that mutations in the KDM6A gene may contribute to the development of KS.
Mutations in the MLL2 and KDM6A genes may result in disruptions in the regulation of muscle-specific genes during embryogenesis and development. The epigenetic interaction of MLL2 and KDM6A appears to contribute significantly to the characteristic phenotype in KS.
That said, because not all affected individuals have mutations in MLL2 and/or KDM6A, scientists believe KS to be genetically heterogeneous, with the involvement of much inter-genomic interactions.
Journal of Human Genetics (2012) 57, 223–227; doi:10.1038/jhg.2012.28; published online 22 March 2012