Identification of a Rare and Potential Pathogenic MC4R Variant in a Brazilian Patient With Adulthood-Onset Severe Obesity.

ABSTRACT:

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 melanocortin 4 receptor (MC4R) 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. In this context, this study aimed to sequence the MC4R gene in a Brazilian cohort of adults with severe obesity.

Methods

This study included 163 unrelated probands with Body Mass Index (BMI) ≥ 35 kg/m², stratified into three groups, according to the period of obesity onset. From the total sample, 25 patients were enrolled in the childhood-onset group (0-11

SUBMITTER: Salum KCR 

PROVIDER: S-EPMC7756028 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature