title: [Mutational analysis of MECP2 gene in Rett syndrome].
abstract: 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.
authors.affiliation: Department of Pediatrics, First Hospital, Peking University, Beijing, 100034 P.R.China. panmuren@263.net
authors.forename: Hong
authors.initials: H
authors.lastname: Pan
authors.forename: Yanping
authors.initials: Y
authors.lastname: Wang
authors.forename: Hongdi
authors.initials: H
authors.lastname: Meng
authors.forename: Xinhua
authors.initials: X
authors.lastname: Bao
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhang
authors.forename: Yan
authors.initials: Y
authors.lastname: Shen
authors.forename: Xiru
authors.initials: X
authors.lastname: Wu
mesh_terms: 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
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins; D004247:DNA