De novo missense mutation, S541Y, in the p63 gene underlying Rapp–Hodgkin ectodermal dysplasia syndrome

Authors

  • V. Shotelersuk,

    1. Division of Medical Genetics and Metabolism, Department of Pediatrics, Division of Plastic Surgery, Department of Surgery, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
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  • S. Janklat,

    1. Division of Medical Genetics and Metabolism, Department of Pediatrics, Division of Plastic Surgery, Department of Surgery, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
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  • P. Siriwan,

    1. Division of Medical Genetics and Metabolism, Department of Pediatrics, Division of Plastic Surgery, Department of Surgery, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
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  • S. Tongkobpetch

    1. Division of Medical Genetics and Metabolism, Department of Pediatrics, Division of Plastic Surgery, Department of Surgery, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
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V. Shotelersuk, Division of Medical Genetics and Metabolism, Department of Paediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand. E-mail: vorasuk.s@chula.ac.th

Summary

Rapp–Hodgkin syndrome (RHS) is an autosomal dominant disorder characterized by ectodermal dysplasia and cleft lip/cleft palate. Very recently, mutations in p63 have been identified as a cause of RHS; to date five such mutations have been identified. We describe a Thai girl with RHS. She had short stature, ectodermal dysplasia, epiphora, cleft lip, cleft palate, and normal development. Mutation analysis for the entire coding region of p63 identified a novel and de novo mutation, 1622C→A (S541Y), in the SAM domain, predicting an abnormal α tail of the p63α protein isotypes. This observation supports that majority of patients with RHS are caused by mutations affecting the tail of p63α, a region that also contains most of the pathogenic mutations in ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome.

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