Display Settings:

Format

Send to:

Choose Destination
Oncotarget. 2011 Dec;2(12):1127-33.

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

Collaborators (184)

Amor D, Andries S, Archer H, Armstrong R, Ashton-Prolla P, Baralle D, Barnicoat A, Barrow M, Beales P, Becker K, Beckh-Arnold E, Berg J, Bernhard B, Bhat M, Birch J, Bitner M, Blair E, Bliek J, Blyth M, Brady A, Brice G, Brueton L, Burn J, Canham N, Castle B, Cecconi M, Chandler K, Chandrasena R, Cilliers D, Clarke A, Clayton-Smith J, Clericuzio C, Cole T, Colley A, Collins A, Connell F, Cook J, Crow Y, Dabir T, Dalton A, Danda S, Davies S, Day R, Dennis N, Deshpande C, Desouza B, Devlin L, Differ AM, Dinwiddie R, Dobbie A, Donnai D, Ellis I, Elmslie F, Firth H, Fisher R, Fitzpatrick D, Flinter F, Foley P, Foulds N, Fryer A, Gallagher A, Garcia S, Gardiner C, Gibbons R, Gillerot Y, Goudie D, Gowrishanker K, Graham C, Gregersen N, Harper J, Hughes H, Henderson A, Hennekam R, Hobson E, Holder S, Homfray T, Huma Z, Hurst J, Irving M, Izatt L, Jagadeeth S, Jessen C, Johnson D, Josifova D, Joss S, Kerr B, Liebelt J, Kini U, Krause A, Kumar A, Kumar D, Lam W, Lapunzina P, Lees M, Leonard N, Livesey A, Longman C, Lucassen A, Lunt P, Lynch S, MacDonnell J, Magee A, Maher E, Male A, Mansour S, McConnell V, McEntagart M, McKee S, McKeown C, Mehta S, Metcalfe K, Mohammed S, Monaghan G, Montgomery T, Morgan A, Morrison P, Morton J, Mudgal R, Murday V, Nampoothiri S, Nemeth A, Newbury-Ecob R, Oley C, Owen C, Park SM, Parker M, Patel C, Patton M, Pilz D, Pinkney M, Pocha M, Pottinger C, Prescott K, Price S, Proctor A, Quarrell O, Rankin J, Raymond L, Rea G, Reardon W, Reid E, Robards M, Roposch A, Rosser E, Rourke D, Ruddy D, Saggar A, Sampson J, Sandford R, Sarkar A, Scott R, Semple R, Sharif S, Shaw A, Shaw-Smith C, Shears D, Shelagh J, Smith G, Smithson S, Splitt M, Stevens M, Stewart F, Stewart H, Stopps K, Suri M, Sweeney E, Tanateles G, Taylor C, Temple K, Tischowitz M, Tolmie J, Tomkins S, Turnpenny P, Van-Haelst M, Van Maldergem L, Vandersteen A, Vasudevan P, Wakeling E, Walker L, Williams D, Wilson L, Woods G, Wright M, Zankl A.

Author information

  • 1Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK.

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.

Comment in

PMID:
22190405
[PubMed - indexed for MEDLINE]
PMCID:
PMC3282071
Free PMC Article

Images from this publication.See all images (2)Free text

Figure 1
Figure 2
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Impact Journals, LLC Icon for PubMed Central
    Loading ...
    Write to the Help Desk