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

Lookup NU author(s): Dr Miranda Splitt

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

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.

Publication metadata

Author(s): Tatton-Brown K, Hanks S, Ruark E, Zachariou A, Duarte SD, Ramsay E, Snape K, Murray A, Perdeaux ER, Seal S, Loveday C, Banka S, Clericuzio C, Flinter F, Magee A, McConnell V, Patton M, Raith W, Rankin J, Splitt M, Strenger V, Taylor C, Wheeler P, Temple IK, Cole T, Douglas J, Rahman N, Childhood Overgrowth Collaboration

Publication type: Article

Publication status: Published

Journal: Oncotarget

Year: 2011

Volume: 2

Issue: 12

Pages: 1127-1133

Online publication date: 21/12/2011

Acceptance date: 20/12/2011

Date deposited: 18/11/2015

ISSN (electronic): 1949-2553

Publisher: Impact Journals LLC

URL: http://dx.doi.org/10.18632/oncotarget.385

DOI: 10.18632/oncotarget.385

PubMed id: 22190405

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