Interestingly, it was recently shown that metformin can directly bind to KDM6A and it is tempting to speculate that this could influence mTORC1 signalling and therefore explain some of the mechanistic mode of action of metformin treatment.49 One avenue for addressing the function of KDM6A in normal physiology could be patients suffering from Kabuki syndrome, which have a germline deletion in KDM6A.50 Here, KDM6A is linked to Kabuki syndrome.