title: Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome.
abstract: Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000-15,000 female births worldwide. The disease-causing gene has been identified as MECP2 (methyl-CpG-binding protein 2). In this study, we performed diagnostic mutational analysis of the MECP2 gene in RTT patients. Four exons and a putative promoter of the MECP2 gene were analyzed from the peripheral blood of 43 Korean patients with Rett syndrome by PCR-RFLP and direct sequencing. Mutations were detected in the MECP2 gene in approximately 60.5% of patients (26 cases/43 cases). The mutations consisted of 14 different types, including 9 missense mutations, 4 nonsense mutations and 1 frameshift mutation. Of these, three mutations (G161E, T311M, p385fsX409) were newly identified and were determined to be disease-causing mutations by PCR- RFLP and direct sequencing analysis. Most of the mutations were located within MBD (42.3%) and TRD (50%). T158M, R270X, and R306C mutations were identified at a high frequency. Additionally, an intronic SNP (IVS3+23C>G) was newly identified in three of the patients. IVS3+23C>G may be a disease-related and Korea-specific SNP for RTT. L100V and A201V are apparently disease-causing mutations in Korean RTT, contrary to previous studies. Disease-causing mutations and polymorphisms are important tools for diagnosing RTT in Koreans. The experimental procedures used in this study should be considered for clinical molecular biologic diagnosis.
authors: Department of Biochemistry, Pusan National University, Busan 602-739, Korea.
authors: In Joo
authors: IJ
authors: Kim
authors: Yeon Joo
authors: YJ
authors: Kim
authors: Byeong Hee
authors: BH
authors: Son
authors: Sang Ook
authors: SO
authors: Nam
authors: Hoon Chul
authors: HC
authors: Kang
authors: Heung Dong
authors: HD
authors: Kim
authors: Mi Ae
authors: MA
authors: Yoo
authors: Ook Hwan
authors: OH
authors: Choi
authors: Cheol Min
authors: CM
authors: Kim