hrp0092fc15.2 | Late Breaking Abstracts | ESPE2019

HDAC4 Mutations Cause Diabetes and Induce β-Cell FoxO1 Nuclear Exclusion

Gong Maolian , Yu Yong , Vuralli Dogus , Fröhler Sebastian , Kühnen Peter , Du Bois Philipp , Zhang Jingjing , Hussain Khalid , Fielitz Jens , Jia Shiqi , Chen Wei , Raile Klemens

Background: Studying patients with rare Mendelian diabetes has highlighted molecular mechanisms regulating β-cell pathophysiology. Previous, experimental studies have shown that Class IIa histone deacetylases (HDAC4, 5, 7, and 9) modulate mammalian pancreatic endocrine cell differentiation, function and finally glucose homeostasis.Methods: We performed exome sequencing in one adolescent boy with non-autoimmune di...