hrp0095p1-265 | Fat, Metabolism and Obesity | ESPE2022

A point mutation of SH2B1: a new cause of monogenic obesity?

CriscuoloSabrina , Ubertini Graziamaria , d'Aniello Francesco , Mirra Giulia , Mucciolo Mafalda , Elisa Amodeo Maria , Deodati Annalisa , Rapini Novella , Cappa Marco

Early identification of monogenic obesity, a rare condition, is quite challenging for pediatricians. Src-homology-2 (SH2) B adapter protein 1 (SH2B1) is an important component in the leptin-melanocortin pathway and it is found to play an important role in leptin and insulin signaling. In humans a rare deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene, is associated with a highly penetrant form of isolated severe earl...