Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome
Experimental & Molecular Medicine
;
: 119-125, 2006.
Article
in English
| WPRIM
| ID: wpr-15700
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Polymorphism, Restriction Fragment Length
/
DNA Mutational Analysis
/
Molecular Sequence Data
/
Base Sequence
/
Rett Syndrome
/
Polymerase Chain Reaction
/
Polymorphism, Single Nucleotide
/
Methyl-CpG-Binding Protein 2
/
Korea
/
Mutation
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
English
Journal:
Experimental & Molecular Medicine
Year:
2006
Type:
Article
Similar
MEDLINE
...
LILACS
LIS