Familial oligodontia and regional odontodysplasia associated with a PAX9 initiation codon mutation View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-02-26

AUTHORS

Sari Koskinen, Riikka Keski-Filppula, Heikki Alapulli, Pekka Nieminen, Vuokko Anttonen

ABSTRACT

OBJECTIVE: Tooth agenesis is one of the most common craniofacial developmental anomalies. In hypodontia, one to five teeth are missing, whereas oligodontia refers to the absence of at least six teeth, excluding the third molars. Mutations in several genes including MSX1, PAX9, AXIN2, and WNT10A have been shown to cause non-syndromic tooth agenesis. Regional odontodysplasia (RO), also known as "ghost teeth," is a rare developmental anomaly of tooth formation affecting both dentitions. Some possible causes of RO have been suggested, yet the etiology remains unknown. Because the phenotypes of both oligodontia and RO co-occur in one Finnish family, the aim here was to investigate the genetic etiology of the two conditions. MATERIALS AND METHODS: A mutation screening of the genes MSX1, PAX9, AXIN2, and WNT10A was performed for the family members of a RO patient and family history of oligodontia. RESULTS: An initiation codon mutation of the PAX9 gene was found in the proband and segregating with oligodontia in the family. CONCLUSIONS: The etiology of regional odontodysplasia (RO) may be genetic and the same genes can be involved both in RO and tooth agenesis. CLINICAL RELEVANCE: Our results give new insights into the etiology of regional odontodysplasia, yet further results are needed. More... »

PAGES

1-5

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00784-019-02849-5

DOI

http://dx.doi.org/10.1007/s00784-019-02849-5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1112393210

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30809714


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135 Medical Research Center, Oulu University Hospital and University of Oulu, POB 21, 90029, Oulu, Finland
136 rdf:type schema:Organization
137 https://www.grid.ac/institutes/grid.412326.0 schema:alternateName Oulu University Hospital
138 schema:name Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland
139 Department of Oral and Maxillofacial Diseases, Oulu University Hospital, POB 21, 90029, Oulu, Finland
140 PEDEGO Research Unit, Clinical Genetics, Medical Research Center Oulu, University of Oulu, Oulu, Finland
141 rdf:type schema:Organization
142 https://www.grid.ac/institutes/grid.7737.4 schema:alternateName University of Helsinki
143 schema:name Department of Oral and Maxillofacial Diseases, Clinicum, University of Helsinki, Helsinki, Finland
144 rdf:type schema:Organization
 




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