TY - JOUR
T1 - Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
AU - Tatton-Brown, Katrina
AU - Hanks, Sandra
AU - Ruark, Elise
AU - Zachariou, Anna
AU - Duarte, Silvana Del Vecchio
AU - Ramsay, Emma
AU - Snape, Katie
AU - Murray, Anne
AU - Perdeaux, Elizabeth R.
AU - Seal, Sheila
AU - Loveday, Chey
AU - Banka, Siddharth
AU - Clericuzio, Carol
AU - Flinter, Frances
AU - Magee, Alex
AU - McConnell, Vivienne
AU - Patton, Michael
AU - Raith, Wolfgang
AU - Rankin, Julia
AU - Splitt, Miranda
AU - Strenger, Volker
AU - Taylor, Clare
AU - Wheeler, Patricia
AU - Temple, Karen I.
AU - Cole, Trevor
AU - Douglas, Jenny
AU - Rahman, Nazneen
AU - AUTHOR GROUP
AU - Amor, D.
AU - Andries, S.
AU - Archer, H.
AU - Armstrong, R.
AU - Ashton-Prolla, P.
AU - Baralle, D.
AU - Barnicoat, A.
AU - Barrow, M.
AU - Beales, P.
AU - Becker, K.
AU - Beckh-Arnold, E.
AU - Berg, J.
AU - Bernhard, B.
AU - Bhat, M.
AU - Birch, J.
AU - Bitner, M.
AU - Blair, E.
AU - Bliek, J.
AU - Blyth, M.
AU - Brady, A.
AU - Brice, G.
AU - Brueton, L.
AU - Hennekam, R.
PY - 2011
Y1 - 2011
N2 - 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
AB - 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
M3 - Article
C2 - 22190405
SN - 1949-2553
VL - 2
SP - 1127
EP - 1133
JO - Oncotarget
JF - Oncotarget
IS - 12
ER -