title: TP63 gene mutations in Chinese P63 syndrome patients.
abstract: TP63 plays an essential role in the development of epidermis and skin appendages. Mutations in TP63 can give rise to a series of syndromes characterized by various combinations of ectodermal dysplasia, limb malformations, and orofacial clefting in many populations. To test whether TP63 is the disease-causative gene for these phenotypes in Chinese, we recruited two Chinese Ectrodactyly-Ectodermal-dysplasia-Cleft lip/palate syndrome (EEC) cases and a Limb-Mammary-Syndrome (LMS) patient to carry out TP63 gene sequencing. Three missense mutation, c.812G>C (Ser271Thr), c.611G>A (Arg204Gln), and c.680G>A (Arg227Gln), which lead to the substitution of highly conserved amino acids in the DNA-binding domain of TP63, were identified. These mutations were predicted to disrupt DNA-binding specificity and affinity. To our knowledge, this is the first report of EEC and LMS syndromes in individuals of Chinese descent. Analysis of our data demonstrated that TP63 is critical for the development of ectoderm in humans.
authors.affiliation: Key Laboratory for Oral Biomedical Engineering of the Ministry of Education, Hospital and School of Stomatology, Wuhan University, Luoyu Road 237, Wuhan 430079, P. R. China.
authors.forename: W
authors.initials: W
authors.lastname: Yin
authors.forename: X
authors.initials: X
authors.lastname: Ye
authors.forename: L
authors.initials: L
authors.lastname: Shi
authors.forename: Q K
authors.initials: QK
authors.lastname: Wang
authors.forename: H
authors.initials: H
authors.lastname: Jin
authors.forename: P
authors.initials: P
authors.lastname: Wang
authors.forename: Z
authors.initials: Z
authors.lastname: Bian
mesh_terms: D000293:Adolescent; D000848:Anodontia / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D001940:Breast / Q000002:abnormalities*; D002681:China; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics*; D004252:DNA Mutational Analysis; D004475:Ectoderm / Q000254:growth & development*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008297:Male; D008957:Models, Genetic; D020125:Mutation, Missense; D010375:Pedigree; D017434:Protein Structure, Tertiary / Q000235:genetics; D013577:Syndrome; D015534:Trans-Activators / Q000235:genetics*; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins