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.
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Authors | Dong Han, Hua Wu, Xiao-xia Zhang, Hai-lan Feng |
Journal | Zhonghua 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 |
PMID | 21211247
(Publication Type: Journal Article)
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Chemical References |
- TP63 protein, human
- Transcription Factors
- Tumor Suppressor Proteins
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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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