Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome
Experimental & Molecular Medicine
; : 119-125, 2006.
Article
em En
| WPRIM
| ID: wpr-15700
Biblioteca responsável:
WPRO
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.
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Base de dados:
WPRIM
Assunto principal:
Polimorfismo de Fragmento de Restrição
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Análise Mutacional de DNA
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Dados de Sequência Molecular
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Sequência de Bases
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Síndrome de Rett
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Reação em Cadeia da Polimerase
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Polimorfismo de Nucleotídeo Único
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Proteína 2 de Ligação a Metil-CpG
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Coreia (Geográfico)
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Mutação
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Experimental & Molecular Medicine
Ano de publicação:
2006
Tipo de documento:
Article