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Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome

Authors
 In-Joo Kim  ;  Yeon-Joo Kim  ;  Byeong-Hee Son  ;  Sang-Ook Nam  ;  Hoon-Chul Kang  ;  Heung-Dong Kim  ;  Mi-Ae Yoo  ;  Ook-Hwan Choi  ;  Cheol-Min Kim 
Citation
 EXPERIMENTAL AND MOLECULAR MEDICINE, Vol.38(2) : 119-125, 2006 
Journal Title
 EXPERIMENTAL AND MOLECULAR MEDICINE 
ISSN
 1226-3613 
Issue Date
2006
MeSH
Base Sequence ; DNA Mutational Analysis ; Female ; Humans ; Korea ; Male ; Methyl-CpG-Binding Protein 2/genetics* ; Molecular Sequence Data ; Mutation* ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide ; Rett Syndrome/diagnosis ; Rett Syndrome/genetics*
Keywords
DNA mutational analysis diagnosis MECP2 protein ; human ; polymorphism ; restriction fragment length ; 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.
Files in This Item:
T200601590.pdf Download
DOI
10.1038/emm.2006.15
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Heung Dong(김흥동) ORCID logo https://orcid.org/0000-0002-8031-7336
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/110601
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