Identification of a Rare and Potential Pathogenic Variant in a Brazilian Patient With Adulthood-Onset Severe Obesity.

Background: The melanocortinergic pathway orchestrates the energy homeostasis and impairments in this system often lead to an increase in body weight. Rare variants in the () gene resulting in partial or complete loss of function have been described with autosomal co-dominant inheritance. These mutations are the most common cause of non-syndromic monogenic obesity.