title: [Heterozygous TP63 mutation in a Chinese patient with ectrodactyly-ectodermal dysplasia clefting syndrome without clefting].
abstract: OBJECTIVE
  To determine if alteration in TP63 is responsible for a Chinese patient with ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome, but without cleft palate/lip.
  
  
  METHODS
  Screening of TP63 gene was performed in the patient with EEC syndrome and his family members using PCR-single strand conformational polymorphism (SSCP) analysis, then performed by direct sequencing of the coding region.
  
  
  RESULTS
  A C > T substitution at nucleotide position 838 in exon 7 was detected in the patient, and the change predicted a heterozygous missense mutation, Arg280Cys. His parents showed the wild type.
  
  
  CONCLUSIONS
  The results indicate that the de novo mutation Arg280Cys of the TP63 gene observed in the patient maybe contribute to his EEC syndrome.
authors.affiliation: Department of Prosthodontics, Peking University School and Hospital of Stomatology, Beijing 100081, China.
authors.forename: Dong
authors.initials: D
authors.lastname: Han
authors.forename: Hua
authors.initials: H
authors.lastname: Wu
authors.forename: Xiao-xia
authors.initials: XX
authors.lastname: Zhang
authors.forename: Hai-lan
authors.initials: HL
authors.lastname: Feng
mesh_terms: D044466:Asian People; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005091:Exons; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense; D014157:Transcription Factors / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C115051:TP63 protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins