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Prevalence of WNT10A gene mutations in non-syndromic oligodontia

  • G. Ruiz-Heiland
  • S. Lenz
  • N. BockEmail author
  • S. Ruf
Original Article

Abstract

Objectives

Non-syndromic oligodontia is an infrequent clinical condition whose etiology is not yet completely understood being a wide spectrum of gene mutations described in concomitance with this severe form of tooth agenesis. Recently, multiple observations have linked up to 50% of cases with isolated hypodontia to mutations in the WNT10A gene. Here, we hypothesized that mutations in the WNT10A gene could also be present in families affected by non-syndromic oligodontia.

Material and methods

All available patients with non-syndromic oligodontia (n = 20) treated at the Department of Orthodontics, University of Giessen, Germany between 1986 and 2013 as well as their family members were analyzed for mutations in the WNT10A gene.

Results

Mutation screening was positive in 50% of the 20 patients. The analysis revealed that the mutations 2:219755011(c.682T>TA)(p.F228I), 2:219754822(c.493G>GA)(p.G165R), 2:219754816(c.487C>CT)(p.R163W), and 2:219747090(c.321C>CA)(p.C107*), the novel missense mutation 2:219757676(c.937G/GT)(p.G313C), and the novel synonym variant 2:219754854(c.525C>CT)(p.H175H) were present.

Conclusion

Multiple phenotypes are found in individuals presenting mutations in the WNT10A gene. Among them, the stop codon p.C107* as well as the biallelic p.F228I variants correlate with the most severe oligodontia phenotypes. In addition, we diagnosed the monoallelic mutations p.F228I, p.G165R, and p.G313C in healthy relatives with normal dentitions.

Clinical relevance

A correct diagnosis of non-syndromic oligodontia is fundamental to discard a possible underlying pathology in which multiple tooth agenesis could be the most evidential clinical sign. Due to the wide spectrum of pathologies that are associated to mutations in the WNT10A gene, an extended genetic analysis of these individuals’ relatives is also essential.

Keywords

Non-syndromic oligodontia WNT10A Gene Mutation Pedigree Analysis 

Notes

Acknowledgments

We sincerely thank the patients and their family members for their participation in the study; the German Orthodontic Society (DGKFO) for funding our research; Prof. D. Nolte, Department of Human Genetics, Justus-Liebig University, Giessen; and Dr. C. Grünig, Microsynth AG, Balgach, Switzerland, for the helpful discussions during the analysis of results.

Funding

The work was supported by the German Orthodontic Society (DGKFO).

Compliance with ethical standards

Conflict of interest

Author A declares that she has no conflict of interest. Author B declares that she has no conflict of interest. Author C declares that he has no conflict of interest. Author D declares that she has no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional research committee (Medical Faculty, University of Giessen, Germany, file number 122/12) and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Written informed consent was obtained from all individual participants or, in case of minors, from their parents.

Supplementary material

784_2018_2731_MOESM1_ESM.pdf (391 kb)
ESM 1 (PDF 391 kb)

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of OrthodonticsJustus-Liebig University, GiessenGiessenGermany
  2. 2.LübeckGermany

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