title: EED-associated overgrowth in a second male patient.
abstract: 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.
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.|Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, British Columbia, Canada.
authors.forename: Ana Sa
authors.initials: AS
authors.lastname: Cohen
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.|Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, British Columbia, Canada.
authors.forename: William T
authors.initials: WT
authors.lastname: Gibson
mesh_terms: D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D019066:Facies; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D063151:Polycomb Repressive Complex 2 / Q000235:genetics* / Q000378:metabolism; D017422:Sequence Analysis, DNA
chemical_list: C491488:EED protein, human; D063151:Polycomb Repressive Complex 2