Abstract
AbstractCongenital tooth agenesis is one of the most common anomalies in humans. Many genetic factors are involved in tooth development, including MSX1, PAX9, WNT10A, and LRP6. Thus, mutations in these genes can cause congenital tooth agenesis in humans. In this study, we identified a novel nonsense WNT10A variant, NM_025216.3(WNT10A_v001):c.1090A > T, which produces a C-terminal truncated gene product, p.(Lys364*), in a sporadic form of congenital tooth agenesis. The variant was not found in the healthy parents and thus was considered to cause congenital tooth agenesis in the case.
Funder
Japan Agency for Medical Research and Development
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Reference18 articles.
1. Schalk-van der Weide, Y., Steen, W. H. & Bosman, F. Distribution of missing teeth and tooth morphology in patients with oligodontia. ASDC J. Dent. Child 59, 133–140 (1992).
2. Huang, Y. et al. Functional evaluation of a novel tooth agenesis-associated bone morphogenetic protein 4 prodomain mutation. Eur. J. Oral. Sci. 121, 313–318 (2013).
3. Song, S. et al. WNT10A variants are associated with non-syndromic tooth agenesis in the general population. Hum. Genet. 133, 117–124 (2014).
4. Mostowska, A. et al. Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis. Clin. Genet. 84, 429–440 (2013).
5. Polder, B. J., Van’t Hof, M. A., Van der Linden, F. P. & Kuijpers-Jagtman, A. M. A meta-analysis of the prevalence of dental agenesis of permanent teeth. Community Dent. Oral. Epidemiol. 32, 217–226 (2004).
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