Please use this identifier to cite or link to this item: http://cmuir.cmu.ac.th/jspui/handle/6653943832/56838
Title: Making extra teeth: Lessons from a TRPS1 mutation
Authors: Worawan Kunotai
Panjit Ananpornruedee
Mark Lubinsky
Apitchaya Pruksametanan
Piranit Nik Kantaputra
Keywords: Biochemistry, Genetics and Molecular Biology
Medicine
Issue Date: 1-Jan-2017
Abstract: © 2016 Wiley Periodicals, Inc. A Thai mother and her two daughters were affected with tricho-rhino-phalangeal syndrome type I. The daughters had 15 and 18 supernumerary teeth, respectively. The mother had normal dentition. Mutation analysis of TRPS1 showed a novel heterozygous c.3809_3811delACTinsCATGTTGTG mutation in all. This mutation is predicted to cause amino acid changes in the Ikaros-like zinc finger domain near the C-terminal end of TRPS1, which is important for repressive protein function. The results of our study and the comprehensive review of the literature show that pathways of forming supernumerary teeth appear to involve APC and RUNX2, the genes responsible for familial adenomatous polyposis syndrome and cleidocranial dysplasia, respectively. The final pathway resulting in supernumerary teeth seems to involve Wnt, a morphogen active during many stages of development. © 2016 Wiley Periodicals, Inc.
URI: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84987983513&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/56838
ISSN: 15524833
15524825
Appears in Collections:CMUL: Journal Articles

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