Article
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms.
Brain & development - 1 Apr 2005
Fukuda Takayuki, Yamashita Yushiro, Nagamitsu Shinichiro, Miyamoto Kenichi, Jin Jing-Ji, Ohmori Iori, Ohtsuka Yoko, Kuwajima Katsuko, Endo Shoichi, Iwai Tsuyako, Yamagata Hidehisa, Tabara Yasuharu, Miki Tetsuro, Matsuishi Toyojiro, Kondo Ikuko
Abstract excerpt
A total of 45 different mutations of methyl-CpG-binding protein 2 gene (MECP2) were identified in 145 of 219 Japanese patients with typical or atypical Rett syndrome (RTT) (66.2%). A missense mutation, T158M was the most common mutation of MECP2, identified in 22 (19.1%) patients, followed by four nonsense mutations, R168X (14.8%), R270X (13.0%), R255X (9.6%), and R294X (6.1%) in 115 patients with classical RTT....
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Chromosomal Proteins, Non-Histone
- DNA Mutational Analysis
- DNA-Binding Proteins
- Humans
- Japan
- Methyl-CpG-Binding Protein 2
- Mutation
- Polymerase Chain Reaction