hrp0095p1-79 | Fat, Metabolism and Obesity | ESPE2022

Severe early-onset obesity and diabetic ketoacidosis due to a novel homozygous c.169C>T p.Arg57* mutation in CEP19 gene

Cayir Atilla , Turkyilmaz Ayberk , Rabenstein Hannah , Guven Fadime , Sumeyra Karagoz Yuksel , Wabitsch Martin , Demirbilek Huseyin

Background and Objective: Homozygous mutations in the “Centrosomal Protein-19 (CEP19)” gene are extremely rare causes of early-onset severe monogenic obesity. We, herein, report three siblings with CEP19 mutation.Case Presentation and Method: The index case was a 12-years-old female who presented with severe obesity (BMI:62.7kg/m2), metabolic syndrome and diabetic ketoacidosis. Her non-identical twin female s...