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

137 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)110-118
Number of pages9
JournalAmerican Journal of Human Genetics
Volume90
Issue number1
DOIs
StatePublished - Jan 13 2012

Fingerprint

Mutation
Exome
Genes
Weaver syndrome
Enhancer of Zeste Homolog 2 Protein

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Gibson, W. T., Hood, R. L., Zhan, S. H., Bulman, D. E., Fejes, A. P., Moore, R., ... Jones, S. J. M. (2012). Mutations in EZH2 cause weaver syndrome. American Journal of Human Genetics, 90(1), 110-118. https://doi.org/10.1016/j.ajhg.2011.11.018

Mutations in EZH2 cause weaver syndrome. / Gibson, William T.; Hood, Rebecca L.; Zhan, Shing Hei; Bulman, Dennis E.; Fejes, Anthony P.; Moore, Richard; Mungall, Andrew J.; Eydoux, Patrice; Babul-Hirji, Riyana; An, Jianghong; Marra, Marco A.; Chitayat, David; Boycott, Kym M.; Weaver, David D.; Jones, Steven J.M.

In: American Journal of Human Genetics, Vol. 90, No. 1, 13.01.2012, p. 110-118.

Research output: Contribution to journalArticle

Gibson, WT, Hood, RL, Zhan, SH, Bulman, DE, Fejes, AP, Moore, R, Mungall, AJ, Eydoux, P, Babul-Hirji, R, An, J, Marra, MA, Chitayat, D, Boycott, KM, Weaver, DD & Jones, SJM 2012, 'Mutations in EZH2 cause weaver syndrome', American Journal of Human Genetics, vol. 90, no. 1, pp. 110-118. https://doi.org/10.1016/j.ajhg.2011.11.018
Gibson WT, Hood RL, Zhan SH, Bulman DE, Fejes AP, Moore R et al. Mutations in EZH2 cause weaver syndrome. American Journal of Human Genetics. 2012 Jan 13;90(1):110-118. https://doi.org/10.1016/j.ajhg.2011.11.018
Gibson, William T. ; Hood, Rebecca L. ; Zhan, Shing Hei ; Bulman, Dennis E. ; Fejes, Anthony P. ; Moore, Richard ; Mungall, Andrew J. ; Eydoux, Patrice ; Babul-Hirji, Riyana ; An, Jianghong ; Marra, Marco A. ; Chitayat, David ; Boycott, Kym M. ; Weaver, David D. ; Jones, Steven J.M. / Mutations in EZH2 cause weaver syndrome. In: American Journal of Human Genetics. 2012 ; Vol. 90, No. 1. pp. 110-118.
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