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

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 mali

SUBMITTER: Tatton-Brown K 

PROVIDER: S-EPMC3282071 | biostudies-literature | 2011 Dec

REPOSITORIES: biostudies-literature