Mutations in EZH2 cause Weaver syndrome

Am J Hum Genet. 2012 Jan 13;90(1):110-8. doi: 10.1016/j.ajhg.2011.11.018. Epub 2011 Dec 15.

Abstract

We used trio-based whole-exome sequencing to analyze two families affected by Weaver syndrome, including one of the original families reported in 1974. Filtering of rare variants in the affected probands against the parental variants identified two different de novo mutations in the enhancer of zeste homolog 2 (EZH2). Sanger sequencing of EZH2 in a third classically-affected proband identified a third de novo mutation in this gene. These data show that mutations in EZH2 cause Weaver syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Base Sequence
  • Child
  • Child, Preschool
  • Congenital Hypothyroidism / genetics*
  • Craniofacial Abnormalities / genetics*
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Enhancer of Zeste Homolog 2 Protein
  • Exome
  • Female
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Polycomb Repressive Complex 2
  • Transcription Factors / genetics*
  • Young Adult

Substances

  • DNA-Binding Proteins
  • Transcription Factors
  • EZH2 protein, human
  • Enhancer of Zeste Homolog 2 Protein
  • Polycomb Repressive Complex 2

Supplementary concepts

  • Weaver syndrome