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

Tatton-Brown, Katrina, Hanks, Sandra, Ruark, Elise, Zachariou, Anna, del Vecchio Duarte, Silvana, Ramsay, Emma, Snape, Katie, Murray, Anne, Perdeaux, Elizabeth R, Seal, Sheila, Loveday, Chey, Banka, Siddharth, Clericuzio, Carol, Flinter, Frances, Magee, Alex, McConnell, Vivienne, Patton, Michael, Raith, Wolfgang, Rankin, Julia, Splitt, Miranda, Strenger, Volker, Taylor, Clare, Wheeler, Patricia, Temple, I Karen, Cole, Trevor, Douglas, Jenny and Rahman, Nazneen (2011) Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height Oncotarget, 2, (12), pp. 1127-1133. (PMID:22190405).


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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.

Item Type: Article
ISSNs: 1949-2553 (print)
Related URLs:
Keywords: EZH2, Weaver syndrome, height, myeloid malignancies, histone methyltransferase
Organisations: Human Development & Health
ePrint ID: 207497
Date :
Date Event
21 December 2011e-pub ahead of print
Date Deposited: 11 Jan 2012 14:52
Last Modified: 18 Apr 2017 00:37
Further Information:Google Scholar

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