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Abstract

Exome sequencing is a powerful tool for gene discovery, and recently it was used to find that Kabuki syndrome is caused by mutations in MLL2. In this issue of the Journal, Hannibal et al. report the spectrum of MLL2 mutations in 110 families with Kabuki syndrome. MLL2 encodes a histone methyltransferase that plays a key role in epigenetic regulation of chromatin structure. See article by Hannibal et al. in this issue.