The presence of mutations in different genes have been reported to be pathogenic for obesity with alterations of the leptin–melanocortin pathway, including leptin (LEP), leptin receptor (LEPR), proopiomelanocortin (POMC), prohormone convertase 1 (PCSK1), and the melanocortin 4 receptor (MC4R), [4] as reported in Figure 1. The gene discussed is LEP; the disease is obesity due to melanocortin 4 receptor deficiency.