[Mutational analysis of MECP2 gene in Rett syndrome].
OBJECTIVE
To investigate mutations of MECP2 gene in classical sporadic Rett syndrome (RTT) patients in China.


METHODS
Polymerase chain reaction, single strand conformation polymorphism, cloning and direct sequencing were employed to analyse the three exons of MECP2 gene in 26 RTT patients and their parents, and in 2 sisters of 2 of the RTT patients.


RESULTS
Nine different mutations in exon 3 were identified in 14 of the 26 patients with RTT, including 3 missense mutations, 3 nonsense mutations, and 3 frame-shift mutations (2 deletion mutations and 1 insert mutation); 2 of these were novel. A missense variant was also identified, which was carried by unaffected father and affected daughter.


CONCLUSIONS
Mutations in MECP2 gene were found over 50% of patients with RTT in China.
Pan
Hong
H
Department of Pediatrics, First Hospital, Peking University, Beijing, 100034 P.R.China. panmuren@263.net
Wang
Yanping
Y
Meng
Hongdi
H
Bao
Xinhua
X
Zhang
Yan
Y
Shen
Yan
Y
Wu
Xiru
X
D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D051783:Methyl-CpG-Binding Protein 2; D016254:Mutagenesis, Insertional; D009154:Mutation; D020125:Mutation, Missense; D018807:Polymorphism, Single-Stranded Conformational; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000235:genetics*; D017384:Sequence Deletion
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins; D004247:DNA