Article
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.
Human mutation - 1 Jun 2017
Imagawa Eri, Higashimoto Ken, Sakai Yasunari, Numakura Chikahiko, Okamoto Nobuhiko, Matsunaga Satoko, Ryo Akihide, Sato Yoshinori, Sanefuji Masafumi, Ihara Kenji, Takada Yui, Nishimura Gen, Saitsu Hirotomo, Mizuguchi Takeshi, Miyatake Satoko, Nakashima Mitsuko, Miyake Noriko, Soejima Hidenobu, Matsumoto Naomichi
Abstract excerpt
Weaver syndrome (WS) is a rare congenital overgrowth disorder caused by heterozygous mutations in EZH2 (enhancer of zeste homolog 2) or EED (embryonic ectoderm development). EZH2 and EED are core components of the polycomb repressive complex 2 (PRC2), which possesses histone methyltransferase activity and catalyzes trimethylation of histone H3 at lysine 27. Here, we analyzed eight probands with clinically...
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