ABSTRACT
INTRODUCTION: Rett syndrome (RS) is a severe neurodevelopmental disorder characterised by normal neurological development followed by progressive developmental regression. The X-linked dominant inheritance of RS has been mapped to the gene that encodes the methyl-CpG-binding protein-2 (MECP2) at Xq28. In the present study, denaturing high-performance liquid chromatography (DHPLC) was used to detect mutations in the MECP2 gene in 20 Malaysian RS patients. METHODS: Polymerase chain reaction (PCR) was carried out to amplify the MECP2 coding exons 2, 3, and 4 in a total of eight reactions (exons 2, 3a, 3b, 4a, 4b, 4c, 4d and 4e). Subsequently, PCR products were analysed by DHPLC. RESULTS: Mutations in the MECP2 gene were detected in 13 of the 20 (65 percent) RS patients. 11 patients had mutations in exons 3b and 4a and six patients had mutations in exon 4c. These mutations were mainly concentrated in the methyl-CpG-binding domain and the transcriptional-repression domain. CONCLUSION: Through the use of post-PCR high-performance liquid chromatography, 65 percent of 20 RS patients were found to have mutation(s) in the MECP2.
