MECP2 mutations in Malaysian Rett syndrome patients.
BACKGROUND
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.


CONCLUSIONS
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.
Fong
C B
CB
Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur 50603, Malaysia. thongmk@um.edu.my
Thong
M K
MK
Sam
C K
CK
Mohamed Noor
M N
MN
Ariffin
R
R
D002851:Chromatography, High Pressure Liquid / Q000379:methods; D005260:Female; D006801:Humans; D008296:Malaysia / Q000453:epidemiology; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D015518:Rett Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*
C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2