Synergistic Mutations of LRP6 and WNT10A in Familial Tooth Agenesis
Abstract
:1. Introduction
2. Materials and Methods
2.1. Enrollment of FTA Families
2.2. Mutational Analyses
2.3. Prediction of Structural Alterations Caused by LRP6 Mutations
2.4. Literature Review and Statistical Analyses
3. Results
3.1. Family 1
3.2. Family 2
3.3. Family 3
3.4. Family 4
3.5. Predicted Structural Alterations and Pathogenicity of LRP6 Missense Mutations
3.6. Pattern of Missing Teeth Associated with LRP6 Loss-of-Function Mutations
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Family | Subject | 8 | 7 | 6 | 5 | 4 | 3 | 2 | 1 | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | No | LRP6 Mutation | WNT10A Mutation | |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Family 1 | I:1 | Max | X | E | X | X | E | E | X | X | 6 | c.3754C>T p.(Gln1252*) | c.338G>A p.(Arg113His) | ||||||||
Man | X | X | X | X | X | ||||||||||||||||
II:1 | Max | ? | X | X | X | X | X | X | ? | 8 | |||||||||||
Man | ? | X | X | ? | |||||||||||||||||
Family 2 | I:1 | Max | X | X | P | X | X | 4 | c.503T>G p.(Met168Arg) | - | |||||||||||
Man | X | X | X | X | |||||||||||||||||
II:1 | Max | ? | X | X | X | X | X | ? | 13 | c.637G>A p.(Gly213Ser) | |||||||||||
Man | ? | X | X | X | X | X | X | X | X | ? | |||||||||||
Family 3 | I:1 | Max | X | P | P | X | 2 | c.2260G>C p.(Ala754Pro) | - | ||||||||||||
Man | X | X | X | X | |||||||||||||||||
II:1 | Max | ? | X | X | X | X | P | P | X | X | X | X | ? | 14 | |||||||
Man | ? | X | X | X | X | X | X | ? | |||||||||||||
Family 4 | II:1 | Max | ? | X | X | X | X | ? | 10 | c.3224A>G p.(Asn1075Ser) | c.499G>C p.(Glu167Gln) | ||||||||||
Man | ? | X | X | X | X | X | X | ? |
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Chu, K.-Y.; Wang, Y.-L.; Chou, Y.-R.; Chen, J.-T.; Wang, Y.-P.; Simmer, J.P.; Hu, J.C.-C.; Wang, S.-K. Synergistic Mutations of LRP6 and WNT10A in Familial Tooth Agenesis. J. Pers. Med. 2021, 11, 1217. https://doi.org/10.3390/jpm11111217
Chu K-Y, Wang Y-L, Chou Y-R, Chen J-T, Wang Y-P, Simmer JP, Hu JC-C, Wang S-K. Synergistic Mutations of LRP6 and WNT10A in Familial Tooth Agenesis. Journal of Personalized Medicine. 2021; 11(11):1217. https://doi.org/10.3390/jpm11111217
Chicago/Turabian StyleChu, Kuan-Yu, Yin-Lin Wang, Yu-Ren Chou, Jung-Tsu Chen, Yi-Ping Wang, James P. Simmer, Jan C.-C. Hu, and Shih-Kai Wang. 2021. "Synergistic Mutations of LRP6 and WNT10A in Familial Tooth Agenesis" Journal of Personalized Medicine 11, no. 11: 1217. https://doi.org/10.3390/jpm11111217