Source:http://linkedlifedata.com/resource/pubmed/id/16672765
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
2006-5-4
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pubmed:abstractText |
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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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1226-3613
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:day |
30
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pubmed:volume |
38
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
119-25
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pubmed:meshHeading |
pubmed-meshheading:16672765-Base Sequence,
pubmed-meshheading:16672765-DNA Mutational Analysis,
pubmed-meshheading:16672765-Female,
pubmed-meshheading:16672765-Humans,
pubmed-meshheading:16672765-Korea,
pubmed-meshheading:16672765-Male,
pubmed-meshheading:16672765-Methyl-CpG-Binding Protein 2,
pubmed-meshheading:16672765-Molecular Sequence Data,
pubmed-meshheading:16672765-Mutation,
pubmed-meshheading:16672765-Polymerase Chain Reaction,
pubmed-meshheading:16672765-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:16672765-Polymorphism, Single Nucleotide,
pubmed-meshheading:16672765-Rett Syndrome
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pubmed:year |
2006
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pubmed:articleTitle |
Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome.
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pubmed:affiliation |
Department of Biochemistry, Pusan National University, Busan 602-739, Korea.
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pubmed:publicationType |
Journal Article
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