Article
Novel SUZ12 mutations in Weaver-like syndrome.
Clinical genetics - 1 Nov 2018
Imagawa Eri, Albuquerque Edoarda V A, Isidor Bertrand, Mitsuhashi Satomi, Mizuguchi Takeshi, Miyatake Satoko, Takata Atsushi, Miyake Noriko, Boguszewski Margaret C S, Boguszewski César L, Lerario Antonio M, Funari Mariana A, Jorge Alexander A L, Matsumoto Naomichi
Abstract excerpt
SUZ12 is a core component of polycomb repressive complex 2 (PRC2) along with EZH2 and EED. Recently, germline mutations in the SUZ12, EZH2 and EED genes have been reported in Weaver syndrome (WS) or Weaver-like syndrome, suggesting a functional link between PRC2 deficits and WS. However, only one case of a SUZ12 mutation presenting with Weaver-like syndrome has been reported. Here, we report a missense and a...
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