Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
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.
EZH2, Weaver syndrome, height, myeloid malignancies, histone methyltransferase
1127-1133
Tatton-Brown, Katrina
dbad5eb1-70eb-4fde-8f67-a37ff32ef9c6
Hanks, Sandra
69252af9-4d09-4c6c-987e-5965a21a58c7
Ruark, Elise
c5c08cd3-5579-4525-85b4-a6f2cd5e9a86
Temple, I. Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Tatton-Brown, Katrina
dbad5eb1-70eb-4fde-8f67-a37ff32ef9c6
Hanks, Sandra
69252af9-4d09-4c6c-987e-5965a21a58c7
Ruark, Elise
c5c08cd3-5579-4525-85b4-a6f2cd5e9a86
Temple, I. Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Tatton-Brown, Katrina, Hanks, Sandra and Ruark, Elise
,
et al.
(2011)
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
Oncotarget, 2, .
(doi:10.18632/oncotarget.385).
(PMID:22190405)
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.
Text
oncotarget-v2i12-385
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Accepted/In Press date: 20 December 2011
e-pub ahead of print date: 21 December 2011
Keywords:
EZH2, Weaver syndrome, height, myeloid malignancies, histone methyltransferase
Organisations:
Human Development & Health
Identifiers
Local EPrints ID: 207497
URI: http://eprints.soton.ac.uk/id/eprint/207497
ISSN: 1949-2553
PURE UUID: 1e892673-9874-4352-bc5e-7d7bbb665e61
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Date deposited: 11 Jan 2012 14:52
Last modified: 15 Mar 2024 03:00
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Author:
Katrina Tatton-Brown
Author:
Sandra Hanks
Author:
Elise Ruark
Corporate Author: et al.
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