TP63 Gene Mutations in Chinese P63 Syndrome Patients

• DOI: 10.1177/0022034510366804
• Publication Date: 2010-04-22T02:34:41Z
• Authors: W. Yin; X. Ye; L. Shi; Q.K. Wang; H. Jin; P. Wang; Z. Bian
• Keywords: Ectrodactyly; Limb development

TP63 plays an essential role in the development of epidermis and skin appendages. Mutations can give rise to a series syndromes characterized by various combinations ectodermal dysplasia, limb malformations, orofacial clefting many populations. To test whether is disease-causative gene for these phenotypes Chinese, we recruited two Chinese Ectrodactyly-Ectodermal-dysplasia-Cleft lip/palate syndrome (EEC) cases Limb-Mammary-Syndrome (LMS) patient carry out sequencing. Three missense mutation, c.812G>C (Ser271Thr), c.611G>A (Arg204Gln), c.680G>A (Arg227Gln), which lead substitution highly conserved amino acids DNA-binding domain TP63, were identified. These mutations predicted disrupt specificity affinity. our knowledge, this first report EEC LMS individuals descent. Analysis data demonstrated that critical ectoderm humans.