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

Kantaputra Piranit N. | Zendy; Malaivijitd Sutti | Zendy; Vieira Alexandre R. | Zendy; Heering Jan | Zendy; Dötsch Volker | Zendy; Khankasikum Theerapong | Zendy; Sripathomsawat Warissara | Zendy

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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

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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