Rare and pathogenic variations in the MC4R (MIM:155541), POMC (MIM:176830), LEP (MIM:164160), LEPR (MIM:601007) and few other genes of LEP‐melanocortin pathway have been found and very less frequency of mutations was accounted in different studies due to complexity in the pathogenesis of obesity (Gill et al., 2014; Paracchini et al., 2005). The gene discussed is LEPR; the disease is obesity due to melanocortin 4 receptor deficiency.