MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome

ConclusionThis is probably because the variants inMECP2 exon 3 or 4 disrupt both isoforms of MeCP2, whereas the variant in exon 1, as presented in this study, disrupts only MeCP2_e1 but not MeCP2_e2. Therefore, our findings indicate that MeCP2_e2 may partially compensate for a deficiency in MeCP2_e1.

https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.1088?af=R

Source: Molecular Genetics & Genomic Medicine - December 8, 2019 Category: Genetics & Stem Cells Authors: Ryo Takeguchi, Satoru Takahashi, Mami Kuroda, Ryosuke Tanaka, Nao Suzuki, Yuko Tomonoh, Yukiko Ihara, Nobuyoshi Sugiyama, Masayuki Itoh Tags: CLINICAL REPORT Source Type: research