Korean J Obstet Gynecol Search


Korean Journal of Obstetrics & Gynecology 2006;49(4):813-822.
Published online April 1, 2006.
Mutations and Polymorphims of MECP2 Gene in Rett Syndrome.
Yeon Joo Kim, Dong Hyung Lee, Cheol Min Kim, Ook Hwan Choi
1Department of Obstetrics and Gynecology, Pusan National University School of Medicine, Busan, Korea. ohchoi@pusan.ac.kr
2Department of Biochemistry, Pusan National University School of Medicine, Busan, Korea.
Rett syndrome (RTT) is a severe progressive neurodevelopmental disorder affecting primarily females by mutations in MECP2 gene. The aim of this study was to compare the pattern of mutations in MECP2 gene in Korean RTT with worldwide reports. METHODS: Six girls clinically diagnosed as RTT from April 2001 to March 2003 were recruited. Diagnosis was made according to the diagnostic criteria recommended by Rett Syndrome Diagnostic Criteria Work Group in 1988. Molecular analysis of MECP2 gene was done and compared with worldwide reports. RESULTS: Three of six RTT had mutations in TRD domain of exon 4 in MECP2 gene. Two of these mutations were nonsense mutaions which were previously reported by others, however, one case was a novel mutation with 44 bp deletion which causes frameshift and premature termination of translation at codon 409. Two single nucleotide polymorphism (SNP) was detected in the exon 1 and exon 4. Since the SNP in exon 1 has not been reported by others, it may be a Korean-specific SNP. Because of the size of cases in this study, the genotype-phenotype relationship could not be assessed. CONCLUSION: The results of this study shows the common types of point mutations as well as a novel type of deletion in MECP2 gene in RTT.
Key Words: Rett syndrome, MECP2, Mutation, Polymorphism

Article category

Browse all articles >


Browse all articles >

Editorial Office
4th Floor, 36 Gangnam-daero 132-gil, Gangnam-gu, Seoul 06044, Korea.
Tel: +82-2-2266-7238    Fax: +82-2-3445-2440    E-mail: journal@ogscience.org                

Copyright © 2024 by Korean Society of Obstetrics and Gynecology.

Developed in M2PI

Close layer
prev next