Article
Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation.
Human mutation - 1 Sept 2001
Yamada Y, Miura K, Kumagai T, Hayakawa C, Miyazaki S, Matsumoto A, Kurosawa K, Nomura N, Taniguchi H, Sonta S I, Yamanaka T, Wakamatsu N
Abstract excerpt
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...
Topics
- Amino Acid Substitution
- Chromosomal Proteins, Non-Histone
- DNA
- DNA Mutational Analysis
- DNA-Binding Proteins
- Female
- Genotype
- Humans
- Japan
- Male
- Methyl-CpG-Binding Protein 2
- Mutagenesis, Insertional
- Mutation