Abstract:
: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 alpha tail of the p63alpha protein isotypes. This observation supports that majority of patients with RHS are caused by mutations affecting the tail of p63alpha, a region that also contains most of the pathogenic mutations in ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome.
journal_name
Clin Exp Dermatoljournal_title
Clinical and experimental dermatologyauthors
Shotelersuk V,Janklat S,Siriwan P,Tongkobpetch Sdoi
10.1111/j.1365-2230.2005.01722.xkeywords:
subject
Has Abstractpub_date
2005-05-01 00:00:00pages
282-5issue
3eissn
0307-6938issn
1365-2230pii
CED1722journal_volume
30pub_type
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