Dataset Information

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

ABSTRACT: The biological processes controlling human growth are diverse, complex and poorly understood. Genetic factors are important and human height has been shown to be a highly polygenic trait to which common and rare genetic variation contributes. Weaver syndrome is a human overgrowth condition characterised by tall stature, dysmorphic facial features, learning disability and variable additional features. We performed exome sequencing in four individuals with Weaver syndrome, identifying a mutation in the histone methyltransferase, EZH2, in each case. Sequencing of EZH2 in additional individuals with overgrowth identified a further 15 mutations. The EZH2 mutation spectrum in Weaver syndrome shows considerable overlap with the inactivating somatic EZH2 mutations recently reported in myeloid malignancies. Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth.

SUBMITTER: Tatton-Brown K

PROVIDER: S-EPMC3282071 | biostudies-literature | 2011 Dec

REPOSITORIES: biostudies-literature

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Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Tatton-Brown Katrina K Hanks Sandra S Ruark Elise E Zachariou Anna A Duarte Silvana Del Vecchio Sdel V Ramsay Emma E Snape Katie K Murray Anne A Perdeaux Elizabeth R ER Seal Sheila S Loveday Chey C Banka Siddharth S Clericuzio Carol C Flinter Frances F Magee Alex A McConnell Vivienne V Patton Michael M Raith Wolfgang W Rankin Julia J Splitt Miranda M Strenger Volker V Taylor Clare C Wheeler Patricia P Temple Karen I KI Cole Trevor T Douglas Jenny J Rahman Nazneen N

Oncotarget 20111201 12

The biological processes controlling human growth are diverse, complex and poorly understood. Genetic factors are important and human height has been shown to be a highly polygenic trait to which common and rare genetic variation contributes. Weaver syndrome is a human overgrowth condition characterised by tall stature, dysmorphic facial features, learning disability and variable additional features. We performed exome sequencing in four individuals with Weaver syndrome, identifying a mutation i ...[more]

PMID: 22190405

Dataset Information

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Publications

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

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