Korean J Obstet Gynecol.  2006 Apr;49(4):813-822.

Mutations and Polymorphims of MECP2 Gene in Rett Syndrome

• Kim YJ
• Lee DH
• Kim CM
• Choi OH

Abstract

OBJECTIVE
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.

Keyword

Rett syndrome; MECP2; Mutation; Polymorphism

MeSH Terms

Codon
Diagnosis
Exons
Female
Humans
Point Mutation
Polymorphism, Single Nucleotide
Rett Syndrome*
Codon