Melanocortin-4 Receptor (MC4R) is a transmembrane G protein-coupled receptor expressed in the central nervous system, primarily in the hypothalamus [11, 12]. MC4R plays a critical role in the regulation of energy homeostasis by leptin, and heterozygous mutations in the gene account for 0.5–6.3% of severe or early-onset obesity cases, which represent the most frequent cause of monogenic human obesity syndromes [6]. The gene discussed is LEP; the disease is obesity disorder.