Dissemin is shutting down on January 1st, 2025

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Impact Journals, Oncotarget, 12(2), p. 1127-1133, 2011

DOI: 10.18632/oncotarget.385

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

Journal article published in 2011 by Katrina Tatton-Brown, Silvana del Vecchio Duarte, Sandra Hanks, Elise Ruark, Anna Zachariou, Silvana Del Vecchio Duarte, Emma Ramsay, Katie Snape, Anne Murray, Elizabeth R. Perdeaux, Sheila Seal, Chey Loveday, Carol Clericuzio, Frances Flinter, Alex Magee and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.