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. Author manuscript; available in PMC: 2011 Mar 1.
Published in final edited form as: Nat Genet. 2010 Aug 15;42(9):790–793. doi: 10.1038/ng.646

Figure 1. Genomic structure and allelic spectrum of MLL2 mutations that cause Kabuki syndrome.

Figure 1

MLL2 is composed of 54 exons that encode untranslated regions (orange) and protein coding sequence (blue) including 7 PHD fingers (yellow), FYRN (green), FYRC (green), and a SET domain (red). Arrows indicate the locations of 32 different mutations found in 53 families with Kabuki syndrome including: 20 nonsense, 7 indels, and 5 amino acid substitutions. Asterisks indicate mutations that were confirmed to be de novo and crosses indicate cases for which parental DNA was unavailable.