title: Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate.
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.
authors.affiliation: Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Chiang Mai University, Thailand. dentaland17@gmail.com
authors.forename: Piranit N
authors.initials: PN
authors.lastname: Kantaputra
authors.forename: Sutti
authors.initials: S
authors.lastname: Malaivijitnond
authors.forename: Alexandre R
authors.initials: AR
authors.lastname: Vieira
authors.forename: Jan
authors.initials: J
authors.lastname: Heering
authors.forename: Volker
authors.initials: V
authors.lastname: Dötsch
authors.forename: Theerapong
authors.initials: T
authors.lastname: Khankasikum
authors.forename: Warissara
authors.initials: W
authors.lastname: Sripathomsawat
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D002971:Cleft Lip / Q000235:genetics* / Q000473:pathology*; D002972:Cleft Palate / Q000235:genetics* / Q000473:pathology*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics; D013785:Thailand; D014157:Transcription Factors / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C115051:TP63 protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins