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[Heterozygous TP63 mutation in a Chinese patient with ectrodactyly-ectodermal dysplasia clefting syndrome without clefting].

AbstractOBJECTIVE:
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.
AuthorsDong Han, Hua Wu, Xiao-xia Zhang, Hai-lan Feng
JournalZhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology (Zhonghua Kou Qiang Yi Xue Za Zhi) Vol. 45 Issue 12 Pg. 767-9 (Dec 2010) ISSN: 1002-0098 [Print] China
PMID21211247 (Publication Type: Journal Article)
Chemical References
  • TP63 protein, human
  • Transcription Factors
  • Tumor Suppressor Proteins
Topics
  • Asian People
  • Cleft Lip (genetics)
  • Cleft Palate (genetics)
  • Ectodermal Dysplasia (genetics)
  • Exons
  • Genotype
  • Heterozygote
  • Humans
  • Mutation, Missense
  • Transcription Factors (genetics)
  • Tumor Suppressor Proteins (genetics)

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