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Published on: August 15, 2019
Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate
Piranit N Kantaputra1, Sutti Malaivijitnond, Alexandre R Vieira
1Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Chiang Mai University, Thailand. dentaland17@gmail.com
Abstract:
Mutations in sterile alpha motif (SAM) domain of TP63 have been reported to be associated with ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. SAM domain, a protein-protein interaction module, is found in cytoplasmic signaling proteins and several transcriptional regulatory proteins which are involved in development and differentiation. Here, we report on a SAM domain mutation (p.Asp564His) in TP63 that predisposed the patients to have nonsyndromic cleft palate and nonsyndromic cleft lip and palate.
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