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Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Chae, Jong Hee | - |
dc.contributor.author | Hwang, Yong Seung | - |
dc.contributor.author | Kim, Ki Joong | - |
dc.date.accessioned | 2009-11-04T06:47:43Z | - |
dc.date.available | 2009-11-04T06:47:43Z | - |
dc.date.issued | 2002 | - |
dc.identifier.citation | J Child Neurol 2002;17:33-36 | en |
dc.identifier.issn | 0883-0738 (Print) | - |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11913567 | - |
dc.identifier.uri | https://hdl.handle.net/10371/11125 | - |
dc.description.abstract | Rett syndrome is a progressive neurodevelopmental disorder occurring predominantly in females. Recently, mutations in the MECP2 gene on Xq28, which encodes methyl-CpG binding protein 2, were identified as responsible for some cases of Rett syndrome. In the present study, we analyzed the entire coding sequence of the MECP2 gene in 20 sporadic cases of Rett syndrome in Korea. Of the 20 patients, 14 (70%) had pathogenic mutations, which included 10 different mutations. Altogether, there were five missense mutations (D97Y, L100V, R133C, T158M, R306C), four nonsense mutations (R168X, R255X, R270X, R294X), and one frameshift mutation (a 41-bp deletion at 1157-1197). Two of these were novel mutations (D97Y, L100V). Most of the nucleotide substitutions involved C to T transitions at CpG hotspots. We could find no clear phenotype-genotype correlation according to the type of mutation. However, there was a tendency for patients with no MECP2 mutation (30%) to show more severe symptoms and more rapid clinical progression than patients with mutations. Further studies are necessary to identify the other possible genetic causes of Rett syndrome. | en |
dc.language.iso | en | - |
dc.publisher | Decker Periodicals Inc | en |
dc.subject | DNA-Binding Proteins/*genetics | en |
dc.subject | Frameshift Mutation/genetics | en |
dc.subject | Genotype | en |
dc.subject | Methyl-CpG-Binding Protein 2 | en |
dc.subject | Mutation, Missense/genetics | en |
dc.subject | Neurologic Examination | en |
dc.subject | Phenotype | en |
dc.subject | Rett Syndrome/diagnosis/ethnology/*genetics | en |
dc.subject | Sex Chromosome Aberrations | en |
dc.subject | X Chromosome | en |
dc.subject | Chromosomal Proteins, Non-Histone | - |
dc.subject | DNA Mutational Analysis | - |
dc.subject | Repressor Proteins | - |
dc.title | Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome | en |
dc.type | Article | en |
dc.contributor.AlternativeAuthor | 채종희 | - |
dc.contributor.AlternativeAuthor | 황용승 | - |
dc.contributor.AlternativeAuthor | 김기중 | - |
dc.identifier.doi | 10.1177/088307380201700108 | - |
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