title: [Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients].
abstract: OBJECTIVE
  To investigate mutations in the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients by PCR, denaturing high-performance liquid chromatography (DHPLC) and sequencing to explore the role of mutations in MECP2 in autism patients.
  
  
  METHODS
  We recruited DNA samples from 44 male autism patients who matched the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DMS-IV) standards. DHPLC was used to screen the mutations in MECP2 gene, and DNA sequencing was performed for the samples with positive DHPLC results. The family members were further investigated in the patients with missense mutations in MECP2 gene.
  
  
  RESULTS
  Four cases were found to have mutations in MECP2 gene, including missense mutations of c.590C>T(T197M)in one case and c.602C>T(A201V)in one case, and synonymous mutations of c.1053C>G in one case and c.897C>T in one case. In addition, we found C>T variation in intron 3 at the +74 bp before exon 4, a SNP (rs2071569) usually detected in Chinese population. In the case with c.602C>T(A201V)mutation, his mother and maternal grandfather had the same mutation. His mother had normal phenotype, but his maternal grandfather had depressive disease.
  
  
  CONCLUSIONS
  Mutations in MECP2 are present in male autism patients with relatively higher prevalence, suggesting that these mutations may play roles in the pathogenesis of autism.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: San-mei
authors.initials: SM
authors.lastname: Wang
authors.forename: Ming
authors.initials: M
authors.lastname: Li
authors.forename: Yan-ling
authors.initials: YL
authors.lastname: Yang
authors.forename: Hong
authors.initials: H
authors.lastname: Pan
authors.forename: Jing
authors.initials: J
authors.lastname: Liu
authors.forename: Kai-feng
authors.initials: KF
authors.lastname: Pan
authors.forename: Ding-fang
authors.initials: DF
authors.lastname: Bu
mesh_terms: D001321:Autistic Disorder / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2