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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Authors | Piranit N Kantaputra, Sutti Malaivijitnond, Alexandre R Vieira, Jan Heering, Volker Dötsch, Theerapong Khankasikum, Warissara Sripathomsawat |
Journal | American journal of medical genetics. Part A
(Am J Med Genet A)
Vol. 155A
Issue 6
Pg. 1432-6
(Jun 2011)
ISSN: 1552-4833 [Electronic] United States |
PMID | 21567929
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright © 2011 Wiley-Liss, Inc. |
Chemical References |
- TP63 protein, human
- Transcription Factors
- Tumor Suppressor Proteins
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Topics |
- Base Sequence
- Child, Preschool
- Cleft Lip
(genetics, pathology)
- Cleft Palate
(genetics, pathology)
- DNA Mutational Analysis
- Female
- Genetic Predisposition to Disease
(genetics)
- Humans
- Infant
- Molecular Sequence Data
- Mutation, Missense
(genetics)
- Thailand
- Transcription Factors
(genetics)
- Tumor Suppressor Proteins
(genetics)
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