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

Kantaputra, PN and Malaivijitnond, S and Vieira, AR and Heering, J and Dötsch, V and Khankasikum, T and Sripathomsawat, W (2011) Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate. American Journal of Medical Genetics, Part A, 155 (6). 1432 - 1436. ISSN 1552-4825

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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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Details

Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Kantaputra, PN
Malaivijitnond, S
Vieira, ARarv11@pitt.eduARV11
Heering, J
Dötsch, V
Khankasikum, T
Sripathomsawat, W
Date: 1 June 2011
Date Type: Publication
Journal or Publication Title: American Journal of Medical Genetics, Part A
Volume: 155
Number: 6
Page Range: 1432 - 1436
DOI or Unique Handle: 10.1002/ajmg.a.34011
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 1552-4825
MeSH Headings: Base Sequence; Child, Preschool; Cleft Lip--genetics; Cleft Lip--pathology; Cleft Palate--genetics; Cleft Palate--pathology; DNA Mutational Analysis; Female; Genetic Predisposition to Disease--genetics; Humans; Infant; Molecular Sequence Data; Mutation, Missense--genetics; Thailand; Transcription Factors--genetics; Tumor Suppressor Proteins--genetics
PubMed ID: 21567929
Date Deposited: 24 Sep 2012 20:57
Last Modified: 20 Feb 2020 13:55
URI: http://d-scholarship.pitt.edu/id/eprint/14345

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