PTEN and obesity due to melanocortin 4 receptor deficiency: Excluding the PTEN VUS carriers (described in Additional file 1: Table S2), we compared the phenotype between the PTEN-mut and the PTEN-wt groups, and found several clinical features that were significantly more common among PTEN-mut individuals, such as macrocephaly, mucocutaneous lesions and obesity (body mass index ≥ 30), suggesting their usefulness as criteria to identify PTEN pathogenic variant carriers (Fig. 2A).