hrp0086rfc13.7 | Management of Obesity | ESPE2016

Early Onset Obesity and Hyperphagia Associated with Defects in the GNAS Gene

Garcia Marta , Espinosa Nuria , Guerrero-Fernandez Julio , Salamanca Luis , Morais Ana , Gracia Ricardo , Elkoro Intza Garin , Casado Isabel Gonzalez , de Nanclares Guiomar Perez , Moreno Jose C.

Background: Imprinted genes are known to regulate fetal growth and a ‘parental conflict’ model predicts that paternally and maternally expressed imprinted genes promote and inhibit fetal growth, respectively. GNAS is a complex imprinted locus with multiple oppositely imprinted gene products. Maternal, but not paternal, G(s)alpha mutations lead to obesity in pseudohypoparathyroidism type IA (PHPIA). However, the disorder rarely causes severe obesity in infancy as pred...