Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome

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Chae, Jong Hee; Hwang, Yong Seung; Kim, Ki Joong
Issue Date
Decker Periodicals Inc
J Child Neurol 2002;17:33-36
*Chromosomal Proteins, Non-Histone*DNA Mutational AnalysisDNA-Binding Proteins/*geneticsFrameshift Mutation/geneticsGenotypeMethyl-CpG-Binding Protein 2Mutation, Missense/geneticsNeurologic ExaminationPhenotype*Repressor ProteinsRett Syndrome/diagnosis/ethnology/*geneticsSex Chromosome AberrationsX Chromosome
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.
0883-0738 (Print)
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College of Medicine/School of Medicine (의과대학/대학원)Pediatrics (소아과학전공)Journal Papers (저널논문_소아과학전공)
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