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Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate

Authors

  • Piranit N. Kantaputra,

    Corresponding author
    1. Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Chiang Mai University, Chiang Mai, Thailand
    2. Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand
    3. Dentaland Clinic, Chiang Mai, Thailand
    • Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Chiang Mai 50200, Thailand.
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  • Sutti Malaivijitnond,

    1. Dental Department of Nan Hospital, Nan, Thailand
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  • Alexandre R. Vieira,

    1. Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania
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  • Jan Heering,

    1. Institute of Biophysical Chemistry and Center for Biomolecular Magnetic Resonance and Cluster of Excellence Macromolecular Complexes (CEF), Goethe University, Frankfurt/Main, Germany
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  • Volker Dötsch,

    1. Institute of Biophysical Chemistry and Center for Biomolecular Magnetic Resonance and Cluster of Excellence Macromolecular Complexes (CEF), Goethe University, Frankfurt/Main, Germany
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  • Theerapong Khankasikum,

    1. Dental Department of Mae Sod Hospital, Tak, Thailand
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  • Warissara Sripathomsawat

    1. Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Chiang Mai University, Chiang Mai, Thailand
    2. Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand
    3. Dentaland Clinic, Chiang Mai, Thailand
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  • How to Cite this Article: Kantaputra PN, Malaivijitnond S, Vieira AR, Heering J, Dötsch V, Khankasikum T, Sripathomsawat W. 2011. Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate. Am J Med Genet Part A 155:1432–1436.

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. © 2011 Wiley-Liss, Inc.

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