Evidence that mutations in EZH2 cause Weaver syndrome

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Gibson et al and buy viagra online in ukght” href=”http://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&page=article&op=view&path%5B%5D=385&path%5B%5D=635″ target=”_blank”>Tatton-Brown K et al are reporting that enhancer of zeste homolog 2 (EZH2) is the cause of Weaver syndrome. In the first case, trio-based exome sequencing looking for de novo mutations was used to analyze two families affected by Weaver syndrome, including one of the original families reported in 1974, while in the second 4 affected non-related individuals were sequenced and the result was further confirmed by identifying EZH2 mutations at 15/300 individuals with overgrowth syndromes. EZH2 encodes a member of the Polycomb-group (PcG) family which is involved in maintaining the transcriptional repressive state of genes over successive cell generations (GeneCards) and the presented findings provide further links between histone modifications and the regulation of human growth.

Periklis Makrythanasis, MD, PhD

Gibson et al, Am J Hum Genet. 2012 Jan 13;90(1):110-8

Tatton-Brown K et al, Oncotarget. 2011 Dec 21. [Epub ahead of print]

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