Interestingly, an activating variant of LGR4 (A750T) is linked to obesity in humans (Kettunen et al., 2009, Thorleifsson et al., 2009, Zou et al., 2017), while the non-sense mutation c.376C>T (p.R126X) is associated with reduced body weight (Styrkarsdottir et al., 2013). The gene discussed is LGR4; the disease is obesity due to melanocortin 4 receptor deficiency.