This could provide rational interpretation that patients who harboring pathogenic missense mutants still showed core symptoms of EHMT1. As to c.3310G >A, this is the first reported detection of mosaicism for a missense mutation in EHMT1. The mild manifestations, limited to minor dysmorphic features and obesity, align with previous observations in mosaic carriers [22, 23]. Here, EHMT1 is linked to Obesity.