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

✍ Scribed by Yasukazu Yamada; Kiyokuni Miura; Toshiyuki Kumagai; Chiemi Hayakawa; Shuji Miyazaki; Akiko Matsumoto; Kenji Kurosawa; Noriko Nomura; Hiroko Taniguchi; Shin-Ichi Sonta; Tsutomu Yamanaka; Nobuaki Wakamatsu

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 90 KB
Volume: 18
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1186

No coin nor oath required. For personal study only.

✦ Synopsis

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 Rettlike features (10 cases). Mutations in MECP2 were identified from most of the patients with classical and variant RTT (25 of 27 cases). Six reported common mutations were detected in 17 cases, and rare single nucleotide substitutions were found in 3 patients. In addition, one insertion mutation (1189insA) and four deletion mutations including one double deletion mutant (451delG, 100del4, 1124del53 and 881del289 plus 1187del8) were newly identified. In the 10 mentally retarded patients with Rett-like features, however, no mutation was detected in the coding region of MECP2. The finding of MECP2 mutations in 92.5 % of patients with RTT indicates that RTT fulfilling the diagnostic criteria are due to genetic alteration.

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