EED-associated overgrowth in a second male patient

  • J Hum Genet. 2016 Sep;61(9):831-4. doi: 10.1038/jhg.2016.51.
Ana Sa Cohen  1  2 ,  William T Gibson  1  2
Affiliations
  • 1. Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • 2. Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, British Columbia, Canada.
PMID: 27193220 DOI: 10.1038/jhg.2016.51
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.