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

✍ Scribed by Piranit N. Kantaputra; Sutti Malaivijitnond; Alexandre R. Vieira; Jan Heering; Volker Dötsch; Theerapong Khankasikum; Warissara Sripathomsawat

Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
973 KB
Volume
155
Category
Article
ISSN
1552-4825

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✦ Synopsis

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.

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