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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).

Record type: Article


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.

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e-pub ahead of print date: 21 December 2011
Keywords: EZH2, Weaver syndrome, height, myeloid malignancies, histone methyltransferase
Organisations: Human Development & Health


Local EPrints ID: 207497
ISSN: 1949-2553
PURE UUID: 1e892673-9874-4352-bc5e-7d7bbb665e61

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Date deposited: 11 Jan 2012 14:52
Last modified: 18 Jul 2017 10:50

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Author: Katrina Tatton-Brown
Author: Sandra Hanks
Author: Elise Ruark
Author: Anna Zachariou
Author: Silvana del Vecchio Duarte
Author: Emma Ramsay
Author: Katie Snape
Author: Anne Murray
Author: Elizabeth R Perdeaux
Author: Sheila Seal
Author: Chey Loveday
Author: Siddharth Banka
Author: Carol Clericuzio
Author: Frances Flinter
Author: Alex Magee
Author: Vivienne McConnell
Author: Michael Patton
Author: Wolfgang Raith
Author: Julia Rankin
Author: Miranda Splitt
Author: Volker Strenger
Author: Clare Taylor
Author: Patricia Wheeler
Author: I Karen Temple
Author: Trevor Cole
Author: Jenny Douglas
Author: Nazneen Rahman

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