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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.
AuthorsPiranit N Kantaputra, Sutti Malaivijitnond, Alexandre R Vieira, Jan Heering, Volker Dötsch, Theerapong Khankasikum, Warissara Sripathomsawat
JournalAmerican 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
PMID21567929 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2011 Wiley-Liss, Inc.
Chemical References
  • TP63 protein, human
  • Transcription Factors
  • Tumor Suppressor Proteins
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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