Exp Mol Med.  2006 Apr;38(2):119-125.

Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome

Affiliations
  • 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.

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.

Keyword

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