SPRED1 and Legius syndrome: The overall prevalence of lipomas in the p.Met922del-positive individuals from this and a previous study4 was 5.5% (7/128); lipomas have also been observed in ~20% of individuals (21/115) with Legius syndrome (MIM 611431), another mild phenotype consisting of pigmentary spots only, caused by pathogenic variants in SPRED1 (MIM 609291).35