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: 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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Authors | Sari Koskinen, Riikka Keski-Filppula, Heikki Alapulli, Pekka Nieminen, Vuokko Anttonen |
Journal | Clinical oral investigations
(Clin Oral Investig)
Vol. 23
Issue 11
Pg. 4107-4111
(Nov 2019)
ISSN: 1436-3771 [Electronic] Germany |
PMID | 30809714
(Publication Type: Journal Article)
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Chemical References |
- Codon, Initiator
- MSX1 Transcription Factor
- PAX9 Transcription Factor
- PAX9 protein, human
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Topics |
- Anodontia
(genetics)
- Codon, Initiator
- Humans
- MSX1 Transcription Factor
- Mutation
- Odontodysplasia
(genetics)
- PAX9 Transcription Factor
(genetics)
- Pedigree
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