New Publication: Studying Muscle in Kabuki Syndrome

The laboratory of the Roya Kabuki Program Co-Director, Dr. Emanuela Gussoni, focuses on understanding muscular function and hypotonia in Kabuki syndrome. Their recent research studies  Lysine methyltransferase 2D regulates muscle fiber size and muscle cell differentiation, have been published in the FASEB journal.

In the research lab, available mouse models with a KMT2D variation as well as skeletal muscle samples of research participants with Kabuki syndrome were studied in parallel. Muscle stem cells from the KMT2D mice show a delay in differentiation.  Muscle stem cells from human samples show variable delay, with some samples that are indistinguishable from unaffected controls.

It is only through the selfless research participation and sample donation of families in the Kabuki syndrome community that these studies and findings are possible. We are eager to continue this work with the research and patient community on a journey to finding therapeutic options for those with Kabuki syndrome. If you you have any questions regarding Dr. Gussoni’s studies and publication, or research in general for Kabuki syndrome please contact us at We love hearing from you!

Citation: Wright A, Hall A, Daly T, et al. Lysine methyltransferase 2D regulates muscle fiber size and muscle cell differentiation. FASEB J. 2021;35:e21955. doi:10.1096/fj.20210 0823R