Cited 11 times in
Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome
DC Field | Value | Language |
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dc.contributor.author | 김흥동 | - |
dc.date.accessioned | 2015-06-10T12:52:24Z | - |
dc.date.available | 2015-06-10T12:52:24Z | - |
dc.date.issued | 2006 | - |
dc.identifier.issn | 1226-3613 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/110601 | - |
dc.description.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. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 119~125 | - |
dc.relation.isPartOf | EXPERIMENTAL AND MOLECULAR MEDICINE | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Base Sequence | - |
dc.subject.MESH | DNA Mutational Analysis | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Korea | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Methyl-CpG-Binding Protein 2/genetics* | - |
dc.subject.MESH | Molecular Sequence Data | - |
dc.subject.MESH | Mutation* | - |
dc.subject.MESH | Polymerase Chain Reaction | - |
dc.subject.MESH | Polymorphism, Restriction Fragment Length | - |
dc.subject.MESH | Polymorphism, Single Nucleotide | - |
dc.subject.MESH | Rett Syndrome/diagnosis | - |
dc.subject.MESH | Rett Syndrome/genetics* | - |
dc.title | Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아과학) | - |
dc.contributor.googleauthor | In-Joo Kim | - |
dc.contributor.googleauthor | Yeon-Joo Kim | - |
dc.contributor.googleauthor | Byeong-Hee Son | - |
dc.contributor.googleauthor | Sang-Ook Nam | - |
dc.contributor.googleauthor | Hoon-Chul Kang | - |
dc.contributor.googleauthor | Heung-Dong Kim | - |
dc.contributor.googleauthor | Mi-Ae Yoo | - |
dc.contributor.googleauthor | Ook-Hwan Choi | - |
dc.contributor.googleauthor | Cheol-Min Kim | - |
dc.identifier.doi | 10.1038/emm.2006.15 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A01208 | - |
dc.relation.journalcode | J00860 | - |
dc.identifier.eissn | 2092-6413 | - |
dc.identifier.pmid | 16672765 | - |
dc.subject.keyword | DNA mutational analysis diagnosis MECP2 protein | - |
dc.subject.keyword | human | - |
dc.subject.keyword | polymorphism | - |
dc.subject.keyword | restriction fragment length | - |
dc.subject.keyword | Rett syndrome | - |
dc.contributor.alternativeName | Kim, Heung Dong | - |
dc.contributor.affiliatedAuthor | Kim, Heung Dong | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 38 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 119 | - |
dc.citation.endPage | 125 | - |
dc.identifier.bibliographicCitation | EXPERIMENTAL AND MOLECULAR MEDICINE, Vol.38(2) : 119-125, 2006 | - |
dc.identifier.rimsid | 57155 | - |
dc.type.rims | ART | - |
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