Article
A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels.
Genes & development - 1 Oct 2023
Zhou Jian, Cattoglio Claudia, Shao Yingyao, Tirumala Harini P, Vetralla Carlo, Bajikar Sameer S, Li Yan, Chen Hu, Wang Qi, Wu Zhenyu, Tang Bing, Zahabiyon Mahla, Bajic Aleksandar, Meng Xiangling, Ferrie Jack J, LaGrone Anel, Zhang Ping, Kim Jean J, Tang Jianrong, Liu Zhandong, Darzacq Xavier, Heintz Nathaniel, Tjian Robert, Zoghbi Huda Y
Abstract excerpt
Loss-of-function mutations in MECP2 cause Rett syndrome (RTT), a severe neurological disorder that mainly affects girls. Mutations in MECP2 do occur in males occasionally and typically cause severe encephalopathy and premature lethality. Recently, we identified a missense mutation (c.353G>A, p.Gly118Glu [G118E]), which has never been seen before in MECP2, in a young boy who suffered from progressive motor...
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