Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating.

@article{LubranoBerthelier2006Melanocortin4R,
  title={Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating.},
  author={C{\'e}cile Lubrano-Berthelier and B{\'e}atrice Dubern and Jean-Marc Lacorte and Franck Picard and Astrid Shapiro and Sumei Zhang and Sandrine Bertrais and Serge Hercberg and Arnaud Basdevant and Karine Cl{\'e}ment and Christian Vaisse},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2006},
  volume={91 5},
  pages={1811-8}
}
CONTEXT Heterozygous mutations in the melanocortin-4 receptor (MC4R) gene are the most common monogenic form of severe obesity in children. There are conflicting reports regarding the prevalence, nature, and pathogenic effects of MC4R mutations in adults with severe late-onset obesity. OBJECTIVE Our objective was to determine the prevalence of MC4R mutations in a cohort of severely obese adults and to determine the clinical phenotype and the phenotype-genotype relationship within adult MC4R… CONTINUE READING