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A novel mutation in the MECP2 gene in a Korean patient with Rett syndrome

Authors
 Eun Young Lee  ;  Hee-Jung Chung  ;  Chang-Seok Ki  ;  Jong-Ha Yoo  ;  Jong Rak Choi 
Citation
 ANNALS OF CLINICAL AND LABORATORY SCIENCE, Vol.41(1) : 93-96, 2011 
Journal Title
ANNALS OF CLINICAL AND LABORATORY SCIENCE
ISSN
 0091-7370 
Issue Date
2011
MeSH
Asian Continental Ancestry Group/genetics* ; Base Sequence ; DNA Mutational Analysis ; Female ; Humans ; Infant ; Male ; Methyl-CpG-Binding Protein 2/genetics* ; Molecular Sequence Data ; Mutation/genetics* ; Pedigree ; Republic of Korea ; RettSyndrome/genetics*
Abstract
Rett syndrome (RTT) is a severe X-linked dominant neurodevelopmental disorder. Mutations in the MECP2 gene on chromosome Xq28 have been shown to be the cause of RTT. Using DNA samples from a RTT patient and her parents, we sequenced three exons and flanking intron regions of the MECP2 gene using the polymerase chain reaction. Sequencing of the MECP2 gene in the proband revealed a novel 41-base pair deletion in exon 4 (c.1152_1192del41). This mutation resulted in premature termination of the 487 amino acid protein at the 390th codon, predicting a partial loss of the C-terminal domain. We did not observe this mutation in either parent of the RTT patient, but further studies are needed to evaluate the possibility of germline mosaicism.
Full Text
http://www.annclinlabsci.org/content/41/1/93.long
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/94320
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