Making extra teeth: Lessons from a TRPS1 mutation.

Worawan Kunotai, Panjit Ananpornruedee, Mark Lubinsky, Apitchaya Pruksametanan, Piranit Nik Kantaputra

Journal: American journal of medical genetics. Part A 2017;173(1):99-107

PMID: 27706911

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Abstract

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.

Address: Department of Oral and Maxillofacial Surgery, Chonburi Hospital, Chonburi, Thailand.; 6003 W. Washington Blvd., Wauwatosa, WI.; Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai, Thailand.; Faculty of Dentistry, Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Chiang Mai University, Chiang Mai, Thailand.; Dentaland Clinic, Chiang Mai, Thailand.

DOI: 10.1002/ajmg.a.37967

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MeSH Terms: Adult, DNA Mutational Analysis, DNA-Binding Proteins, Facies, Female, Fingers, Genetic Association Studies, Hair Diseases, Heterozygote, Humans, Langer-Giedion Syndrome, Middle Aged, Models, Biological, Mutation, Nose, Phenotype, Radiography, Repressor Proteins, Tooth, Supernumerary, Transcription Factors