EED -associated overgrowth in a second male patient

Following our discovery that constitutional mutations in eed can cause overgrowth, we screened our cohort of patients with weaver-like features for mutations in this gene. here we describe a second patient with a different, rare and de novo mutation in eed. phenotypic overlap with our first case of eed-associated overgrowth is significant. now that we have found two unrelated families of different ethnicities, with a similar rare phenotype, both associated with de novo mutations in this member of the prc2 complex, we are confident that eed is indeed a novel overgrowth gene.