1. Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
- Author
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Emma Ramsay, Volker Strenger, Trevor Cole, Katrina Tatton-Brown, Elise Ruark, Jenny Douglas, Miranda Splitt, Frances Flinter, Patricia G. Wheeler, Anna Zachariou, Wolfgang Raith, Julia Rankin, Chey Loveday, Nazneen Rahman, Vivienne McConnell, Anne Murray, Carol L. Clericuzio, Katie Snape, Michael A. Patton, Siddharth Banka, Sheila Seal, Silvana Del Vecchio Duarte, I. Karen Temple, Alex Magee, Elizabeth R Perdeaux, Sandra Hanks, and Clare Taylor
- Subjects
Male ,Biology ,Craniofacial Abnormalities ,Histones ,Germline mutation ,medicine ,Congenital Hypothyroidism ,Humans ,Abnormalities, Multiple ,Enhancer of Zeste Homolog 2 Protein ,Amino Acid Sequence ,Human height ,Germ-Line Mutation ,Growth Disorders ,Weaver syndrome ,Genetics ,Oncogene ,EZH2 ,Polycomb Repressive Complex 2 ,Correction ,Facies ,Histone-Lysine N-Methyltransferase ,Sequence Analysis, DNA ,medicine.disease ,Body Height ,DNA-Binding Proteins ,Oncology ,Histone Methyltransferases ,Female ,Hand Deformities, Congenital ,Transcription Factors - 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.
- Published
- 2018
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