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Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate
Author(s) -
Kantaputra Piranit N.,
Malaivijitd Sutti,
Vieira Alexandre R.,
Heering Jan,
Dötsch Volker,
Khankasikum Theerapong,
Sripathomsawat Warissara
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34011
Subject(s) - ectodermal dysplasia , mutation , medicine , dysplasia , genetics , bioinformatics , biology , gene
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.