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De novo missense mutation, S541Y, in the p63 gene underlying Rapp–Hodgkin ectodermal dysplasia syndrome
Author(s) -
Shotelersuk V.,
Janklat S.,
Siriwan P.,
Tongkobpetch S.
Publication year - 2005
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/j.1365-2230.2005.01722.x
Subject(s) - missense mutation , ectodermal dysplasia , medicine , genetics , mutation , gene , dermatology , biology
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.