Mutations in EZH2 cause weaver syndrome

William T. Gibson, Rebecca L. Hood, Shing Hei Zhan, Dennis E. Bulman, Anthony P. Fejes, Richard Moore, Andrew J. Mungall, Patrice Eydoux, Riyana Babul-Hirji, Jianghong An, Marco A. Marra, David Chitayat, Kym M. Boycott, David D. Weaver, Steven J.M. Jones

Research output: Contribution to journalArticle

146 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)110-118
Number of pages9
JournalAmerican Journal of Human Genetics
Issue number1
StatePublished - Jan 13 2012

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Gibson, W. T., Hood, R. L., Zhan, S. H., Bulman, D. E., Fejes, A. P., Moore, R., Mungall, A. J., Eydoux, P., Babul-Hirji, R., An, J., Marra, M. A., Chitayat, D., Boycott, K. M., Weaver, D. D., & Jones, S. J. M. (2012). Mutations in EZH2 cause weaver syndrome. American Journal of Human Genetics, 90(1), 110-118.