Exp Mol Med.  2006 Apr;38(2):119-125.

Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome

  • 1Department of Biochemistry, College of Medicine, Pusan National University, Busan 602-739, Korea. kimcm@pusan.ac.kr
  • 2Department of Obstetrics and Gynecology, College of Medicine, Pusan National University, Busan 602-739, Korea. ohchoi@pusan.ac.kr
  • 3Department of Pediatrics, College of Medicine, Pusan National University, Busan 602-739, Korea.
  • 4Biomedical Informatics Unit, College of Medicine, Pusan National University, Busan 602-739, Korea.
  • 5Department of Pediatrics, St. Benedict Hospital, Busan 601-731, Korea.
  • 6Department of Pediatrics, Epilepsy Center, College of Medicine, Inje University, Sang-gye Paik Hospital, Seoul 139-707, Korea.
  • 7Department of Pediatrics, College of Medicine, Yonsei University, Severance Hospital, Handicapped Children's Research Institute, Brain Research Institute, Seoul 139-707, Korea.
  • 8Department of Molecular Biology, College of Natural Science, Pusan National University, Busan 609-735, Korea.
  • 9Medical Research Institute, Pusan National University Hospital, Busan 602-739, Korea.


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.


DNA mutational analysis; diagnosis; MECP2 protein; human; polymorphism; restriction fragment length; Rett syndrome
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