EED-associated overgrowth in a second male patient

J Hum Genet. 2016 Sep;61(9):831-4. doi: 10.1038/jhg.2016.51. Epub 2016 May 19.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain / diagnostic imaging
  • Brain / pathology
  • Child, Preschool
  • DNA Mutational Analysis
  • Facies
  • Female
  • Growth Disorders / diagnosis*
  • Growth Disorders / genetics*
  • Growth Disorders / surgery
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation*
  • Pedigree
  • Phenotype*
  • Polycomb Repressive Complex 2 / genetics*
  • Polycomb Repressive Complex 2 / metabolism
  • Sequence Analysis, DNA

Substances

  • EED protein, human
  • Polycomb Repressive Complex 2