title: [Molecular genetic study of MECP2 gene for a patient with typical Rett syndrome].
abstract: OBJECTIVE
  To provide genetic diagnosis and counseling for a 2-year-old girl with typical Rett syndrome through analyzing the methyl-CpG binding protein 2 (MECP2) gene.
  
  
  METHODS
  Potential mutation of the MECP2 gene was screened by DNA sequencing and multiplex ligation-dependent probe amplification (MLPA) analysis of members of the family as well as normal controls. Lymphocyte culture for karyotype analysis was carried out for the patient to exclude chromosomal abnormalities.
  
  
  RESULTS
  The karyotype of the girl was normal. No variation of the MECP2 gene was detected in the patient by direct sequencing. A heterozygosis variation, c.1072G>A in exon 4 of the MECP2 gene was detected in a normal female control, which was not found in other controls. The son and daughter of the female control were respectively heterozygous and homozygous carriers of the same mutation. By MLPA analysis, a heterozygosis deletion of exon 3 and part of exon 4 was detected in the patient. cDNA amplification and sequencing confirmed the presence of a 1176 bp deletion (c.27-1202del1176). The same deletion was not detected in the parents.
  
  
  CONCLUSIONS
  A large deletion in MECP2 gene was detected with MLPA in a patient featuring typical Rett syndrome. The same deletion was missed by sequencing analysis. With cDNA sequencing, the breakage point of the mutation can be mapped precisely.
authors.affiliation: Nanjing University, Nanjing, Jiangsu, People's Republic of China.
authors.forename: Hai-yan
authors.initials: HY
authors.lastname: Zhu
authors.forename: Ya-li
authors.initials: YL
authors.lastname: Hu
authors.forename: Rui-fang
authors.initials: RF
authors.lastname: Zhu
authors.forename: Ying
authors.initials: Y
authors.lastname: Yang
authors.forename: Xiang-yu
authors.initials: XY
authors.lastname: Zhu
authors.forename: Wan-jun
authors.initials: WJ
authors.lastname: Wang
authors.forename: Hong-lei
authors.initials: HL
authors.lastname: Duan
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D005091:Exons; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007621:Karyotyping; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation; D015518:Rett Syndrome / Q000235:genetics*
chemical_list: D051783:Methyl-CpG-Binding Protein 2