Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation.

@article{Yamada2001MolecularAO,
  title={Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation.},
  author={Yasukazu Yamada and Kenji Miura and Toshiyuki Kumagai and Chiemi Hayakawa and Sumio Miyazaki and Akiko Matsumoto and Kenji Kurosawa and Noriko Nomura and Hatsumi Taniguchi and Shin-ichi Sonta and Tsutomu Yamanaka and Nobuaki Wakamatsu},
  journal={Human mutation},
  year={2001},
  volume={18 3},
  pages={253}
}
Rett syndrome is an X-linked dominant neurodevelopmental disorder that affects females almost exclusively. The recent identification of mutations of the methyl-CpG-binding protein 2 gene (MECP2) in patients with RTT, encouraged us to analyze the gene in 37 Japanese patients divided into classical RTT (14 cases), variant RTT (13 cases), and mentally retarded patients with Rett-like features (10 cases). Mutations in MECP2 were identified from most of the patients with classical and variant RTT… CONTINUE READING