Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Tatton-Brown, K; Hanks, S; Ruark, E; Zachariou, A; Duarte, Sdel V; 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, KI; Cole, T; Childhood Overgrowth Collaboration; Douglas, J; Rahman, N.
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
Oncotarget. 2011; 2(12):1127-1133
Doi: 10.18632/oncotarget.385
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- Co-Autor*innen der Med Uni Graz
- Raith Wolfgang
- Strenger Volker
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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.
- Find related publications in this database (using NLM MeSH Indexing)
- Abnormalities, Multiple - genetics
- Amino Acid Sequence -
- Body Height -
- Congenital Hypothyroidism - genetics
- Craniofacial Abnormalities - genetics
- DNA-Binding Proteins - genetics
- Facies -
- Female -
- Germ-Line Mutation -
- Growth Disorders - genetics
- Hand Deformities, Congenital - genetics
- Histone-Lysine N-Methyltransferase - genetics
- Histones - genetics
- Humans -
- Male -
- Polycomb Repressive Complex 2 -
- Sequence Analysis, DNA -
- Transcription Factors - genetics
- Find related publications in this database (Keywords)
- EZH2
- Weaver syndrome
- height
- myeloid malignancies
- histone methyltransferase