University of Oulu

Koskinen, S., Keski-Filppula, R., Alapulli, H. et al. Clin Oral Invest (2019) 23: 4107.

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

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Author: Koskinen, Sari1; Keski-Filppula, Riikka2,3; Alapulli, Heikki4;
Organizations: 1Department of Oral and Maxillofacial Diseases, Oulu University Hospital, POB 21, 90029 Oulu, Finland
2PEDEGO Research Unit, Clinical Genetics, Medical Research Center Oulu, University of Oulu, Oulu, Finland
3Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland
4Department of Oral and Maxillofacial Diseases, Clinicum, University of Helsinki, Helsinki, Finland
5Institute of Dentistry, Department of Cariology, Endodontology and Pedodontics, University of Oulu, POB 5281, 90014 Oulu, Finland
6Medical Research Center, Oulu University Hospital and University of Oulu, POB 21, 90029 Oulu, Finland
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 1.1 MB)
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Language: English
Published: Springer Nature, 2019
Publish Date: 2019-05-09


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.

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Series: Clinical oral investigations
ISSN: 1432-6981
ISSN-E: 1436-3771
ISSN-L: 1432-6981
Volume: 23
Issue: 11
Pages: 4107 - 4111
DOI: 10.1007/s00784-019-02849-5
Type of Publication: A1 Journal article – refereed
Field of Science: 313 Dentistry
Funding: The work was supported by the Department of Oral and Maxillofacial Surgery, Special Dental Care and Orthodontics of Erasmus Medical Centre in Rotterdam, the Netherlands. Open access funding provided by University of Oulu including Oulu University Hospital.
Copyright information: © The Author(s) 2019. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.