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Original Research

Open Access

Tooth Agenesis: Newer Concept

  • Meena Kulkarni1
  • Tripti Agrawal1,*,
  • Supriya Kheur1

1Department of Oral Pathology and Microbiology, Dr. DY Patil Dental College and Hospital

DOI: 10.17796/jcpd.36.1.p74362q544210p33 Vol.36,Issue 1,January 2012 pp.65-70

Published: 01 January 2012

*Corresponding Author(s): Tripti Agrawal E-mail: triptiagrawal29@gmail.com

Abstract

Developmental disturbances involving the oral cavity affect the growth and development of a child. Tooth agenesis may be associated with a number of documented syndromes or may present as an isolated entity. The presence or absence of teeth is decided by the influence of various genes and their signaling pathways. These syndromes appear due to chromosomal defects or due to mutations in the genes responsible for organogenesis. Identification of these mutations helps understand the underlying defect and plays an important role in their treatment strategies. This is a comprehensive review of literature on syndromic and nonsyndromic forms of dental agenesis and an attempt in enlisting various syndromes associated with dental agenesis.

Keywords

Tooth agenesis, non syndromic, syndromic, children

Cite and Share

Meena Kulkarni,Tripti Agrawal,Supriya Kheur. Tooth Agenesis: Newer Concept. Journal of Clinical Pediatric Dentistry. 2012. 36(1);65-70.

References

1. Orban. Oral Histology and Embryology. Ed 12th. G. S. Kumar; 22–44, 2007. 

2. Philias R. Garant. Oral Cells and Tissues, 1–25, 2007.

3. Ten Cate. Oral Histology. Ed 7th. Antonio Nanci; 79–107, 2004. 

4. Vieira AR, Meira R, Modesto A, Murray JC. MSX1, PAX9, and TGF A Contribute to tooth Agenesis in Humans. Journal of Dental Research, 83: 723–727, 2004.

5. Shafer, Hine and Levy. Textbook of Oral Pathology. Ed 6th. R. Rajen-dran and B Sivapathasundharam, 3–79, 2009.

6. Marianna  B.  Molecular  genetics  of  the  tooth  development.  Current opinion in Genitics & Development, 19: 504–510, 2009.

7. Huelsken J, Behrens J. The Wnt signallingPathway. Journal of Cell Sci-ences, 115: 3977–3978, 2002.

8. DeCoster PJ, Marks LA, Martens LC, Huysseune A. Review article: Dental agenesis: genetic and clinical perspectives. J Oral Pathol Med, 38: 1–17, 2009.

9. Amerongen R, Nusse R. Towards an integrated view of Wnt signaling in the Development. Development; 136: 3205-3214, 2009.

10. Matalova E, Fleischmannova J, Sharpe PT, Tucker AS. Tooth Agenesis: from  Molecular  genetics  to  Molecular  Dentistry.  Journal  of  Dental Research, 87: 617–623, 2008.

11. Wang XP, Åberg T, James MJ, Levanon D, Groner Y, Thesleff I. Runx2 (Cbfa1) Inhibits Shh Signaling in the Lower but not Upper Molars of Mouse  Embryos  and  Prevents  the  Budding  of  Putative  Successional Teeth. J Dent Res, 84: 138–143, 2005.

12. Vieira AR.  Oral  Clefts  and  Syndromic  Forms  of  Tooth Agenesis  as Models  for  Genetics  of  Isolated  Tooth  Agenesis.  J Dent  Res,  82: 162–165, 2003.

13. Modesto A, Moreno LM, Krahn K, King S, Lidral AC. MSX1 and Oro-facial  Clefting  with  and  without  Tooth  Agenesis.  J  Dent  Res,  85: 542–546, 2006.

14. Seifi M, Kazwmi B, Golkar P. The role of MSX1 in Tooth Agenesis in Iranians.  International  Journal  of  Pediatric  Dentistry,  17:  254–258, 2007. 

15. Pirinen  S,  Arte  S,  Apajalahti  S.  Palatal  Displacement  of  Canine  is Genetic and Related to Congenital Absence of Teeth. J Dent Res, 75: 1742–1746, 1996.16. Bowers S, Guo DC, Cavender A, Xue L, Evans B, King T, Milewicz D, Dsouza  RN.  A  Novel  Mutation  in  Human  PAX9Causes  Molar Oligodontia. J Dent Res, 81: 129–133, 2002.

17. Barat P, Duggal R, Prakesh H. Dentofacial characteristics in Apert Syn-drome: A case report. Journal of Indian society of Pedodontics and Pre-ventive Dentistry, 20: 118–123, 2001.

18. Jeftha A, Stephen L, Morkel JA, Beighton P. Crouzonodermoskeletal syndrome. J Clin Pediatr Dent, 28: 173–6, 2004.

19. Amiel J, Bougeard G, Francannet C, Raclin V, Munnich A, Lyonnet S, Frebourg T. TP63 gene mutation in ADULT syndrome. European Jour-nal of Human Genetics, 9: 642–645, 2001.

20. Duijf  PH, Vanmolkot KR, Propping P, Friedl W, Krieger E, McKeon F, Dotsch V, Brunner HG, van Bokhoven H. Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. Hum Mol Genet, 11: 799–804, 2002.

21. Shilgli A, Reddy RPV, Hugar SM, Despande D. Hypohidrotic ectoder-mal dysplasia: A unique approach to esthetic and prosthetic manage-ment: A case report. Journal of Indian society of Periodontology and Preventive Dentistry, March: 31–34, 2005.

22. Mortier  K,  Wackens  G.  Ectodermal  Dysplasia  anhidrotic.  Orphanet Encyclopedia; September: 1- 6, 2004.

23. McGrath JA, Duijf PHG, Doetsch V.  Hay-Wells syndrome is caused by heterozygous missense mutation in the SAM Domain of p63. Human Molecular Genetics, 10: 221–229, 2001.

24. Fabrizi GM, Cavallaro T, Angiari C, Cabrini I, Taioli F, Malerba G, et. al. Charcot–Marie–Tooth disease type 2E, a disorder of the cytoskele-ton. Brain, 130: 394–403, 2007.

25. Narcisi P, Richards AJ, Ferguson SD, Pope FM. A family with Ehlers-Danlos  syndrome  type  III/articular  hypermobility  syndrome  has  a glycine 637 to serine substitution in type III collagen. Human Molecu-lar Genetics, 3: 1617–1620, 1996.

26. Colige A, Sieron AL, Li SW, Schwarze U, Petty E, Wertelecki W, et. al. Human  Ehlers-Danlos  Syndrome  Type  VII  C  and  Bovine  Der-matosparaxis Are  Caused  by  Mutations  in  the  Procollagen  I  N-Pro-teinase Gene. Am. J. Hum. Genet, 65: 308–317, 1999.

27. Aarskog D. A familial syndrome of short stature associated with facial dysplasia and genital anomalies. The Journal of Pediatric Dentistry, 77: 856–86, 1970.

28. Nouraei SM, Hasan A, Chaudhari MP, Dunning J. Aarskog syndrome with  aortic  root  dilatation  and  sub-valvular  aortic  stenosis:  surgical management.  Interactive  Cardio  Vascular  and  Thoracic  Surgery,  4: 47–48, 2005.

29. Baujat G, Merrer ML. Ellis-Van Creveld syndrome. Orphanet Journal of Rare Diseases, 2: 27, 2007.

30. Alkhouri  N,  Kaplan  B,  Kay  M,  Shealy  A,  Crowe  C,  Bauhuber  S, Zenker M. Johanson-Blizzard syndrome with mild phenotypic features confirmed  by  UBR1  gene  testing.  World  J  Gastroenterol,  14: 6863–6866, 2008.16. Bowers S, Guo DC, Cavender A, Xue L, Evans B, King T, Milewicz D, Dsouza  RN.  A  Novel  Mutation  in  Human  PAX9Causes  Molar Oligodontia. J Dent Res, 81: 129–133, 2002.

31. Pizzuti A, Flex E, Mingarelli R, Salpietro C, Zelante L, Dallapiccola B. A  homozygous  GJA1 gene  mutation  causes  a  Hallermann-Streiff/ODDD spectrum phenotype. Human Mutation, 23: 286, 2004. 

32. Faivre L, Daire VC. Seckel syndrome. Orphanet encyclopedia, April: 1- 3, 2005.

33. Harmsen MB, Burri SA, Gonzalez MMG, Kaesbach GG, Meinecke P, Müller  D,  et.  al.    Goltz–Gorlin  (focal  dermal  hypoplasia)  and  the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap PORCN mutations in patients with FDH. European Journal of Human Genetics, 17: 1207–1215, 2009.

34. Francois J, Dufour J, Pratt DS. Alagille syndrome with colonic poly-posis.  The  American  Journal  of  Gastroenterology,  96:  2775–2777, 2001.

35. Sanggaard KM, Rendtorff ND, Kjaer KW, Eiberg H, Johnsen T, Gims-ing  S,  et.  al.  Branchio–oto–renal  syndrome:  detection  of  EYA1and SIX1 mutations in five out of six Danish families by combining link-age,  MLPA  and  sequencing  analyses.  European  Journal  of  Human Genetics, 15: 1121–1131, 2007. 

36. Holmberg J, Liu CY, Hjalt TA. PITX2 Gain-of-Function in Rieger Syn-drome  Eye  Model.  American  Journal  of  Pathology,  165:  1633–41, 2004. 

37. Romio L, Wright V, Price K, Paul J. D. Winyard, Donnai D, Porteous ME, Franco B, Giorgio G, Malcolm S, Woolf AS, Feather SA. OFD1, the  Gene  Mutated  in  Oral-Facial-Digital  Syndrome  Type  1,  Is Expressed in the Metanephros and in Human Embryonic Renal Mes-enchymal Cells. J Am Soc Nephrol, 14: 680–689, 2003.

38. Robertson SP, Jenkins ZA, Morgan T, Ades L, Aftimos S, Boute O, et al. Frontometaphyseal Dysplasia:Mutations in FLNA and Phenotypic Diversity.  American  Journal  of  Medical  Genetics  Part  A,  140A: 1726–1736, 2006. 

39. Kassner  EG,  Haller  JO,  Reddy  VH,  Mitarotundo  A,  Katz  I.  Fron-tometaphyseal  Dysplasia:  Evidence  for Autosomal  Dominant  Inheri-tance. American Journal of Roentogenol, 127: 927–933, 1976.

40. Kaneria MV. Moebius Syndrome. Journal, Indian Academy of Clinical Medicine, 7 1: 53–4, 2006. 

41. Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J. Pseudoxanthoma elasticum:  Mutations  in  the  MRP6  gene  encoding  a  transmembrane ATP-binding  cassette  (ABC)  transporter.  Proceedings  of  National Committee of Sciences, 97: 6001–6006, 2000.

42. Kantaputra PN, Hamada T, Kumchai T, J.A. McGrath. Heterozygous Mutation in the SAM Domain of p63Underlies Rapp-Hodgkin Ecto-dermal Dysplasia. J Dent Res, 82: 433–437, 2003.

43. Gupta N, Kabra M. Larsen Syndrome. Indian Pediatrics, 17: 783, 2008. 

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