Endocrine Abstracts

Background/objectives: Kabuki Syndrome 1 (KS1) is a neurodevelopmental disorder caused by loss-of-function of histone 3 lysine 4 mono-methyltransferase KMT2D. In addition, to neurodevelopmental features, some Kabuki Syndrome patients also exhibit endocrine-related phenotypes, such as hypoglycaemia. KMT2D is involved in global gene regulation, therefore, it is important to have a systems-based approach to understand pathomechanisms of KS1.<p class="abstext"...