hrp0084p2-371 | Fat | ESPE2015

Prevalence and Phenotypic Characterization of MC4R Mutations in a Large Paediatric Cohort

Vollbach Heike , Brandt Stephanie , Lahr Georgina , Wabitsch Martin

Background: The melanocortin-4-receptor (MC4R) plays a key role in body weight regulation. Hypothalamic activation of MC4R reduces food intake and increases energy expenditure. Mutations in the MC4R gene lead to the most common cause of monogenetic obesity. More than 150 different mutations are currently known. Their prevalence in obese subjects differs between 0.2 and 5.8%, depending on ethnicity, age and grade of obesity of the analysed cohort. Impact on phenotype a...