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Lookup NU author(s): Dr Miranda Splitt
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
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.
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
Online publication date: 21/12/2011
Acceptance date: 20/12/2011
Date deposited: 18/11/2015
ISSN (electronic): 1949-2553
Publisher: Impact Journals LLC
PubMed id: 22190405
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