Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096p66 | Fat, Metabolism and Obesity | IMPE2023

A novel variant in MRAP2 associated with severe early-onset obesity: a case report

Rodrigues Ferreira Fernanda , Sartorio Silva Rangel Renata , Baratela Wagner , Alberto Longui Carlos , Monte Osmar , Kochi Cristiane

Monogenic obesity is a rare, severe condition, associated with early-onset weight gain. In the last years, due to advances in genetic technique and sequencing technology, an increasing number of variants causing monogenic obesity has been described, mostly genes encoding components of leptin-melanocortin pathways. The accessory protein MRAP2 (Melanocortin Receptor Accessory Protein 2) acts in body weight regulation and its inactivation is associated with early-onset severe obe...