Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate
| Autor: | Jan Heering, Alexandre R. Vieira, Theerapong Khankasikum, Sutti Malaivijitnond, Piranit Nik Kantaputra, Volker Dötsch, Warissara Sripathomsawat |
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| Rok vydání: | 2010 |
| Předmět: |
Ectodermal dysplasia
Cleft Lip DNA Mutational Analysis Molecular Sequence Data SUMO protein Mutation Missense medicine.disease_cause Signaling proteins TP63 Genetics medicine Humans Genetic Predisposition to Disease Genetics (clinical) Mutation Base Sequence business.industry Tumor Suppressor Proteins Infant Congenital cleft medicine.disease Thailand Cleft Palate Child Preschool Female business Sterile alpha motif Rapp–Hodgkin syndrome Transcription Factors |
| Zdroj: | American journal of medical genetics. Part A. (6) |
| ISSN: | 1552-4833 |
| Popis: | 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. © 2011 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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