title: [Clinical features and MECP2 mutations in children with Rett syndrome].
abstract: OBJECTIVE
  To study the clinical features and mutations in methyl-CpG-binding protein 2 (MECP2) gene among children with classical Rett syndrome in China.
  
  
  METHODS
  PCR and direct sequencing were employed to analyze the three exons of MECP2 gene in 9 children recently diagnosed with Rett syndrome and their parents.
  
  
  RESULTS
  Heterozygous mutations were identified in 5 out of 9 patients, with a mutation rate of over 50%; there was one case of insert mutation (c.913insT) and 4 cases of missense mutation (exon 3: c.316C>T (R106W); exon 4: c.502C>T (R168X), c.808C>T (R270X), and c.1126C>T (P376S). A new mutation (c.913insT) was found. No mutations were detected in their parents. Two patients had MECP2 mutations in the transcriptional repression domain (TRD). They had almost lost language functions and were found to have significantly delayed development compared with other patients.
  
  
  CONCLUSIONS
  Mutations in MECP2 gene were detected in 5 confirmed cases of Rett syndrome, and most of them were on exon 4. Mutations in the TRD of MECP2 protein may affect the language ability and development in children with Rett syndrome.
authors.affiliation: Clinical Research Center, Wuhan Children's Hospital, Wuhan 430016, China. liuzsc@126.com.
authors.forename: Pei-Wei
authors.initials: PW
authors.lastname: Zhao
authors.forename: Xue-Lian
authors.initials: XL
authors.lastname: He
authors.forename: Jun
authors.initials: J
authors.lastname: Lin
authors.forename: Ge-Fei
authors.initials: GF
authors.lastname: Wu
authors.forename: Xin
authors.initials: X
authors.lastname: Yue
authors.forename: Bo
authors.initials: B
authors.lastname: Bi
authors.forename: Jia-Sheng
authors.initials: JS
authors.lastname: Hu
authors.forename: Zhi-Sheng
authors.initials: ZS
authors.lastname: Liu
mesh_terms: D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007804:Language Development; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation; D015518:Rett Syndrome / Q000235:genetics* / Q000523:psychology
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2