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Original Research

Open Access

Defining Subphenotypes for Tooth Agenesis: Does Side Matter?

  • Marcelo de Castro Costa1
  • Erika Calvano Küchler1
  • Paulo Ferreira Garcia Filho2
  • Adriana Modesto3
  • Alexandre Rezende Vieira4,*,

1Department of Pediatric Dentistry and Orthodontics, School of Dentistry, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil

2Department of Clinics, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil

3Department of Pediatric Dentistry, School of Dental Medicine, University of Pittsburgh, Pittsburgh, USA

4Departments of Oral Biology and Pediatric Dentistry and Center for Craniofacial and Dental Genetics, School of Dental Medicine, and Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, USA

DOI: 10.17796/jcpd.34.2.955j6875745h6607 Vol.34,Issue 2,March 2010 pp.169-172

Published: 01 March 2010

*Corresponding Author(s): Alexandre Rezende Vieira E-mail: arv11@pitt.edu

Abstract

Objectives: The etiology of tooth agenesis is still poorly understood. The identification of sub-populations with specific types of hypodontia (subphenotypes) would allow testing the specific hypothesis that certain genetic factors contribute to the specific subphenotype. The aim of this work was assessing a large cohort to verify if preferential tooth agenesis subphenotypes could be identified. Method: Panoramic radiographs of 1052 cases were examined and 1034 were used in this study. The presence of tooth agenesis was assessed in the study population. Results: The frequency of tooth agenesis in the studied population was 3.77%. While bilateral cases did not differ in the frequency of agenesis by arch (p = 0.8), unilateral cases presented more commonly agenesis on the mandibular arch (p = 0.03). This result was clearly driven by the frequency of second premolar agenesis, which was the most common absent tooth in the studied population. Unilateral lower second premolar agenesis was found more often than bilateral agenesis (p = 0.047). Conclusions:Our findings that unilateral lower second premolar agenesis is more common than bilateral agenesis, with a trend for unilateral agenesis being more common on the right side may suggest specific genetic factors may be differentially expressed depending on the side.

Keywords

Hypodontia; Oligodontia; Fluctuating Asymmetry; PAX9; MSX1; AXIN2; Cleft Lip and Palate

Cite and Share

Marcelo de Castro Costa,Erika Calvano Küchler,Paulo Ferreira Garcia Filho,Adriana Modesto,Alexandre Rezende Vieira. Defining Subphenotypes for Tooth Agenesis: Does Side Matter?. Journal of Clinical Pediatric Dentistry. 2010. 34(2);169-172.

References

1. Stockton DW, Das P, Goldenberg M, D’Souza RN, Patel PI. Mutation of PAX9 is associated with oligodontia. Nat Genet, 24: 18–19, 2000.

2. Nieminen P, Arte S, Tanner D, Paulin L, Alaluusua S, Thesleff I, Piri-nen S. Identification of a nonsense mutation in the PAX9 gene in molar oligodontia. Euro J Hum Genet, 9: 743–746, 2001.

3. Frazier-Bowers SA, Guo DC, Cavender A, Xue L, Evans B, King T, Miliewicz D, D’Souza RN. A novel mutation in human PAX9 causes molar oligodontia. J Dent Res, 81: 129–133, 2002.

4. Das P, Stockton DW, Bauer C, Shaffer LG, D’Souza RN, Wright JT, et al. Haploinsufficiency of PAX9 in associated with autosomal dominant hypodontia. Hum Genet, 110: 371–376, 2002.

5. Das P, Mehreen H, Elcock C, Leal SM, Brown AH, Patel PI. Novel missense nmutations and 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia. Am J Med Genet, 118A: 35–42, 2003.

6. Lammi L, Halonen K, Pirinen S, Thesleff I, Arte S, Nieminen P. A mis-sense mutation in PAX9 in a family with distinct phenotype of oligodontia. Eur J Hum Genet, 11: 866–871, 2003.

7. Mostowska A, Kobielak A, Biedziak B, Trzeciack WH. Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia. Eur J Oral Sci, 111: 272–276, 2003.

8. Jumlongras D, Lin JY, Chapra A, Seidman CE, Seidman JE, Mass RL, et al. A novel missense mutation in the paired domain of PAX9 cause non-syndromic oligodontia. Hum Genet, 114: 242–249, 2004.

9. Klein ML, Nieminen P, Lammi L, Niebuhr E, Kreiborg S. Novel muta-tion of the initiation codon of PAX9 causes oligodontia. J Dent Res, 84: 43–47, 2005.

10. Zhao JL, Chen YX, Bao L, Xia QJ, Wu TJ, Zhou L. Novel mutations of PAX9 gene in Chinese patients with oligodontia. Zhonghua Kou Qiang Yi Xue Za Zhi, 40: 266–270, 2005.

11. Mostowska A, Biedziak B, Trzeciack WH. A novel mutation in PAX9 causes familial form of molar oligodontia. Eur J Hum Genet, 14: 173–179, 2006.

12. Hansen L, Kreiborg S, Jarlov H, Niebuhr E, Eiberg H. A novel non-sense mutation in PAX9 is associated with marked variability in num-ber of missing teeth. Eur J Oral Sci, 115: 330–333, 2007.

13. Vastardis H, Karimbux N, Guthua SW, Seidman JG, Seidman CE. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet, 13: 417–421, 1996.

14. van den Boogaard MJH, Dorland M, Beemer FA, van Amstel HKP. MSX1 mutation is associated with orofacial clefting and tooth agene-sis in humans. Nat Genet, 24: 342–343, 2000.

15. Jumlongras D, Bei M, Stimson JM, Wang W-F, DePalma SR, Seidman CE, et al. A nonsense mutation in MSX1 causes Witkop Syndrome. Am J Hum Genet, 69: 67–74, 2001.

16. Lidral AC, Reising BC. The role of MSX1 in human tooth agenesis. J Dent Res, 81: 274–278, 2002.

17. Nieminen P, Kotilainen J, Aalto Y, Knuutila S, Pirinen S, Thesleff I. MSX1 gene is deleted in Wolf-Hirschhorn syndrome patients with oligodontia. J Dent Res, 82: 1013–1017, 2003.

18. De Muynck S, Schollen E, Matthijs G, Verdonck A, Devriendt K, Carels C. A novel MSX1 mutation in hyposontia. Am J Med Genet A, 128: 401–403, 2004.

19. Kim JW, Simmer JP, Lin BP, Hu JC. Novel MSX1 frameshift causes autosomal-dominat oligodontia. J Dent Res, 85: 267–271, 2006.

20. Lammi L, Arte S, Somer M, Järvinen H, Lahermo P, Thesleff I, et al. Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet, 74: 1043–1050, 2004.

21. Vieira AR. Oral clefts and syndromics forms of tooth agenesis as mod-els for genetics of isolated tooth agenesis. J Dent Res, 82: 162–165, 2003.

22. Roth P, Hirschfelder U. Frequency of tooth agenesis in CLP patients with eruption of all four third molars. Dtsch Zahnarztl Z, 46: 734–736, 1991.

23. Letra A, Menezes R, Granjeiro JM, Vieira AR. Defining cleft subphe-notypes based on dental development. J Dent Res, 86: 986–991, 2007.

24. Larmour CJ, Mossey PA, Thind BS, Forgie AH, Stirrups DR. Hypodontia—a retrospective review of prevalence and etiology. Part I. Quintessence Int, 36: 263–270, 2005.

25. Moyers RE. Handbook of orthodontics. Year Book Medical Publishers, Chicago; 483, 1988.

26. Palmer AR, Strobeck C. Fluctuating asymmetry and developmental sta-bility: heritability of observable variation vs. heritability of inferred cause. J Evol Biol, 10: 39–49, 1997.

27. Lundström A. Asymmetries in the number and size of the teeth and their aetiological significance. Trans Europ Orthodont Soc, 167–185, 1960.

28. Garn SM, Lewis AB, Kerew-Sky RS. The emaning of bilateral asym-metry in the permanent dentition. Angle Orthod, 36: 55–62, 1966.

29. Garn SM, Lewis AB, Kerew-Sky RS. Buccolingual size asymmetry and its developmental meaning. Angle Orthod, 37: 186–193, 1967.

30. Bailit HL, Workman PL, Niswander JD, MacLean CJ. Dental asymme-try as an indicator of genetic and environmental conditions on human populations. Hum Biol, 42: 626–638, 1970.

31. Perzigian AJ. Fluctuating dental asymmetry: variation among skeletal populations. Am J Phys Anthropol, 47: 81–88, 1977.

32. Harris EF, Nweeia MT. Dental asymmetry as a meausre of environ-mental stress in the Ticuna Indians of Colombia. Am J Phys Anthropol, 53: 133–142, 1980.

33. Towsend GC, Brown T. Dental asymmetry in Australian Aboriginals. Hum Biol, 52: 661–673, 1980.

34. Fogh-Andersen P. Inheritance of Harelip and Cleft Palate. Arnold Busck, Copenhagen; 1942.

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