Article
MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome.
Molecular genetics & genomic medicine - 1 Feb 2020
Takeguchi Ryo, Takahashi Satoru, Kuroda Mami, Tanaka Ryosuke, Suzuki Nao, Tomonoh Yuko, Ihara Yukiko, Sugiyama Nobuyoshi, Itoh Masayuki
Abstract excerpt
BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls. Its causative gene is the X-linked MECP2 encoding the methyl-CpG-binding protein 2 (MeCP2). The gene comprises four exons and generates two isoforms, namely MECP2_e1 and MECP2_e2. However, it remains unclear whether both MeCP2 isoforms have similar function in the brain. METHODS: We report a case of a boy with...
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