Tallón-Walton V, Manzanares-Céspedes MC, Carvalho-Lobato P, Valdivia-Gandur I, Arte S, Nieminen P.  Exclusion of PAX9 and MSX1 mutation in six families affected by tooth agenesis. A genetic study and literature review. Med Oral Patol Oral Cir Bucal. 2014 May 1;19 (3):e248-54.

 

 

doi:10.4317/medoral.19173

http://dx.doi.org/doi:10.4317/medoral.19173

 

 

1. Haavikko K. Hypodontia of permanent teeth. An orthopantomographic study. Suom Hammaslääk Toim. 1971;67:219-25.

 

2. Aasheim B and Ögaard B. Hypodontia in 9 – year – old Norwegians to need of orthodontic treatment. Scand J Dent Res. 1993;101:257-60.

 

3. Manrique MC, Ostos MJ, Gonzalez E. Prevalencia de la agenesia dentaria en la población andaluza. Rev Europ Odontoes. 1998:49-56.

 

4. Tallon-Walton V, Nieminen P, Arte S, Carvalho-Lobato P, Ustrell-Torrent JM, Manzanares-Céspedes MC. An epidemiological study of dental agenesis in a primary health area in Spain: estimated prevalence and associated factors. Med Oral Patol Oral Cir Bucal. 2010;15:e569-74.
http://dx.doi.org/10.4317/medoral.15.e569

 

5. Järvinen S, Lehtinen L. Supernumery and congenitally missing primary teeth in Finnish children. An epidemiologic study. Acta Odontol Scand, 1981;39:83-6.
http://dx.doi.org/10.3109/00016358109162264

 

6. Carvalho JC, Vinker F, Declerck D. Maloclussion, dental injuries and dental anomalies in the primary dentition of Belgian children. Int J Paediatr Dent. 1998;8:137-41.
http://dx.doi.org/10.1046/j.1365-263X.1998.00070.x

 

7. Arte S. Phenotypic and genotypic features of familial hypodontia. 2001. Dissertation. Institute of Dentistry, University of Helsinki.

 

8. Magnusson TE. Prevalence of hypodontia and malformations of permanent teeth in Iceland. Community Dent Oral Epiodemiol. 1977;5:173-8.
http://dx.doi.org/10.1111/j.1600-0528.1977.tb01635.x

 

9. Brook, AH. A unifying aetiological explanation for anomalies of human tooth number and size. Arch Oral Biol. 1984;29:373-8.
http://dx.doi.org/10.1016/0003-9969(84)90163-8

 

10. Baccetti T. A controlled study of associated dental anomalies. Angle Orthod. 1998;68:471-4.

 

11. Apajalahti S, Arte S, Pirinen S. Short root anomaly in families and its association with other dental anomalies. Eur. J. Oral Sci. 1999;107:97-101.
http://dx.doi.org/10.1046/j.0909-8836.1999.eos107204.x

 

12. Schalk-van der Weide Y, Steen WH, Bosman F.Taurodontism and length of teeth in patients with oligodontia. J Oral Rehabil. 1993;20:401-12.
http://dx.doi.org/10.1111/j.1365-2842.1993.tb01624.x

 

13. Ahmad W, Brancolini V, Faiyaz MF, Lam h, Haque S, Haider M, Maimon A, Aita VM, Owen J, Brown D, Zegarelli DJ, Ahmad M, Ott J Christiaano AM. A locus for autosomal recessive hypodontia with associated dental anomalies maps to chromosome 16q12.1 Am. J. Hum. Genet. 1998;62:987-91.
http://dx.doi.org/10.1086/301799

 

14. Alaluusua S, Calderarra P, Gerthoux PM, Lukinmaa PL, Needham O, Patterson DG, Tuomisto J, Mocarelli P. Developmental dental aberrations after dioxin accident in Seveso. Environ Health Perspect. 2004;112:1313-8.
http://dx.doi.org/10.1289/ehp.6920

 

15. Näsman M, Forsberg CM, Dahllöf G. Long term dental development in children after treatment for malignant disease. Eur J Orthod. 1997;19:151-9.
http://dx.doi.org/10.1093/ejo/19.2.151

 

16. Mitsiadis TA, Luder HU. Genetic basis for tooth malformations: from mice to men and back again. Clin Genet. 2011;80:319-29.
http://dx.doi.org/10.1111/j.1399-0004.2011.01762.x

 

17. Thesleff I. Developmental biology and buiding a tooth. Quint. Int. 2003;34:613-20.

 

18. Lammi L, Halonen k, Pirinen S, Thesleff I, Arte S, Nieminen P. Mutations in Axin2 cause familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet. 2004;74:1043-50.
http://dx.doi.org/10.1086/386293

 

19. Thomas BL and Sharpe PT. Patterning of the murine dentition by homeobox genes. Eur J Oral Sci. 1998;106:48-54.

 

20. Stockton DW, Das P, Goldenberg M, D' Souza RN, Patel PI. Mutation of Pax9 is associated with oligodontia (Letter). Nature Genet. 2000;24:18-9.
http://dx.doi.org/10.1038/71634

 

21. Nieminen P, Arte S, Tanner D, Paulin L, Alaluusua S, Thesleff I, Pirinen S. Identification of nonsense mutation in the PAX9 gene in molar oligodontia. Europ. J. Hum. Genet. 2001;9:743-6.
http://dx.doi.org/10.1038/sj.ejhg.5200715

 

22. Das P, Stockton DW, Bauer C, Shaffer LG, D'Souza RN, Wright JT, Patel PI. Haploinsufficinecy of PAX9 is associated with autosomal dominant hypodontia. Hum Genet. 2002;110:371-6.
http://dx.doi.org/10.1007/s00439-002-0699-1

 

23. Das P, Hai M, Elcock C, Leal SM, Brown DT, Brook AH, Patel PI. Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia. Am J Med Genet. 2003;118A:35-42.
http://dx.doi.org/10.1002/ajmg.a.10011

 

24. Lammi L, Halonen K, Pirinen S, Thesleff I, Arte S, Nieminen P. A missense mutation in PAX9 in a family with distinct phenotype of oligodontia. Europ J Hum. Genet. 2003;11:866-71.
http://dx.doi.org/10.1038/sj.ejhg.5201060

 

25. Jumlongras D, Lin Y-Y, Chapra A, Seidman CE, Seidman JG, Maas RL, et al. A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia. Hum Genet. 2004;114:242-9.
http://dx.doi.org/10.1007/s00439-003-1066-6

 

26. Mostowska A, Biedziak B, Trzeciak WH. A novel mutations in PAX 9 causes familial form of molar oligodontia. Eur J Hum Genet. 2006;14:173-9.
http://dx.doi.org/10.1038/sj.ejhg.5201536

 

27. Tallon-Walton V, Manzanares-Céspedes MC, Arte S, Carvalho-Lobato P, Valdivia-Gandur I, Garcia-Susperregui A, et al. Identification of a novel mutation in the PAX9 gene in a family affected by oligodontia and other dental anomalies. Eur J Oral Sci. 2007;115:427-32.
http://dx.doi.org/10.1111/j.1600-0722.2007.00492.x

 

28. Zhao J, Hu Q, Chen Y, Luo S, Bao L, Xu Y. A novel missense mutation in the paired domain of human PAX9 causes oligodontia. Am J Med Genet Part A . 2007;143A:2592-7.
http://dx.doi.org/10.1002/ajmg.a.31993

 

29. Van der Boogaard M-JH, Dorland M, Beemer FA, van Amstel HK. MSX1 mutation is associated with orafacial clefting and tooth agenesis in humans. Nat Genet. 2000;24:342-3.
http://dx.doi.org/10.1038/74155

 

30. Jumlongras D, Bei M, Stimson JM, Wang W-F, DePalma SR, Seidman CE. A nonsense mutation in MSX1 Causes Witkop Syndrome. Am J Hum Genet. 2001;69:67-74.
http://dx.doi.org/10.1086/321271

 

31. Nieminen P, Kotilainen J, Aalto Y, Knuutila S, Pirinen S, Thesfleff I. MSX1 gene is deleted in Wolf-Hirschhon syndrome patients with oligodontia. J Dent Res. 2003;82:1013-7.
http://dx.doi.org/10.1177/154405910308201215

 

32. Van der Boogaard MJ, Créton M, Bronkhorst Y, van der Hout A, Hennekam E, Lindhout D, et al. Mutations in WNT10A are present in more than half of isolated hypodontia cases. J Med Genet. 2012;49:327-31.
http://dx.doi.org/10.1136/jmedgenet-2012-100750

 

33. Alfawaz S, Fong F, Plagnol V, Wong FSL, Fearne J, Kelsell DP. Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene. Arch Oral Biol. 2013;58:462-6.
http://dx.doi.org/10.1016/j.archoralbio.2012.12.008

 

34. Pirinen S, Arte S, Apajalahti S. Palatal displacement of canine is genetic related to congenital absence of teeth. J Dent Res. 1996;75:1742-6.
http://dx.doi.org/10.1177/00220345960750100601

 

35. Nieminen P, Arte S, Pirinen S, Peltonen L, Thesleff I. Gene defect in hypodontia: exclusion of MSX1 and MSX2 as candidate genes. Hum Genet. 1995;96:305-8.
http://dx.doi.org/10.1007/BF00210412

 

36. Scarel RM, Trevilatto PC, Dihipolito O, Camargo L, Line S. Absence of mutations in the homeodomain of the MSX1 gene in patients with hypodontia. J Med Genet. 2000;92:346-9.

 

37. Gerits A, Nieminen P, De Muynck S, Carels C. Exclusion of coding region mutations in MSX1, PAX9 and AXINS in eight patients with severe oligodontia phenotype. Orthod Craniofacial Res. 2006;9:129-36.
http://dx.doi.org/10.1111/j.1601-6343.2006.00367.x

 

38. Mostowska A, Biedziak B, Jagodzinski PP. Axin inhibition protein (AXIN2) polymorphisms may be risk factor for selective tooth agenesis. J Hum Genet. 2006;51:262-6.
http://dx.doi.org/10.1007/s10038-005-0353-6

 

39. Muller TP, Hill IN, Peterson AC, Blayney JR. A survey of congenital missing permanent teeth. J Am Dent Assoc. 1970;81:101-7.

 

40. Brook AH. Dental anomalies of number, form and size: their prevalence in British schoolchildren. J Int Assoc Dent child. 1974;5:37-53.

 

41. Vastardis H , Karimbux N, Guthua SW, Seidman JG, Seidman CE. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet. 1996;13:417-21.
http://dx.doi.org/10.1038/ng0896-417

 

42. Lidral AC, Reising BC. The role of MSX1 in human tooth agenesis. J Dent Res. 2002;81:274-8
http://dx.doi.org/10.1177/154405910208100410

 

43. De Muynck S, Schollen E, Matthijs G, Verdonk A, Devriendt K, Carles C. A novel MSX1 mutation in hypodontia. Am J Med Genet. 2004;128A:401-3.
http://dx.doi.org/10.1002/ajmg.a.30181

 

44. Kim JW, Simmer JP, Lin BP, Hu JC. Novel MSX1 frameshift causes autosomal – dominant oligodontia. J Dent Res. 2006;85:267-71.
http://dx.doi.org/10.1177/154405910608500312

 

45. Frazier-Bowers SA, Guo DC, Cavender A, Xue L, Evans B, King T, et al. A novel mutation in human PAX9 causes molar oligodontia. J Dent Res 2002;81:129-133.
http://dx.doi.org/10.1177/154405910208100209

 

46. Klein ML, Nieminen P, Lammi L, Niebuhr E, Kreiborg S. Novel mutation of the initiation codon of PAX9 causes oligodontia. J Dent Res. 2005;84:43-7.
http://dx.doi.org/10.1177/154405910508400107

 

47. Kapadia H, Frazier-Bowers S, Ogawa T, D'Souza RN. Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis. E J Human Gen. 2006;14:403-9.
http://dx.doi.org/10.1038/sj.ejhg.5201574

 

48. Hansen L, Kreiborg S, Jarlov H, Niebuhr E, Eiberg H. A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth. Eur J Oral Sci. 2007;115:330-3.
http://dx.doi.org/10.1111/j.1600-0722.2007.00457.x

 

49. Peters H, Neubüser A, Kratochwil K, Balling R. Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. Genes Dev. 1998;12:2735-47.
http://dx.doi.org/10.1101/gad.12.17.2735

 

50. Satokata I, Maas R. Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat Genet. 1994;6:348-56.
http://dx.doi.org/10.1038/ng0494-348

 

51. Rauch T, Li H, Wu X, Pfeifer GP. MIRA-assisted microarray analysis, a new technology for the determination of DNA methylation patterns, identifies frequent methylation of homeodomain-containing genes in lung cancer cells. Cancer Res. 2006;66:7939-47.
http://dx.doi.org/10.1158/0008-5472.CAN-06-1888

 

52. Dunwell TL, Hesson LB, Pavlova T, Zabarovska V, Kashuba V, Catchpoole D, et al. Epigenetic analysis of childhood acute lymphoblastic leukemia. Epigenetics. 2009;4:185-93.
http://dx.doi.org/10.4161/epi.4.3.8752

 

53. Kist R, Watson M, Wang X, Cairns P, Miles C, Reid DJ, et al. Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia. Hum Mol Genet. 2005;14:3605-17.
http://dx.doi.org/10.1093/hmg/ddi388

 

54. Coudert AE, Pibouin L, Vi-Fane B, Thomas BL, Macdougall M, Choudhury A, et al. Expression and regulation of the Msx1 natural antisense transcript during development. Nucleic Acids Res. 2005;33:5208-18.
http://dx.doi.org/10.1093/nar/gki831

 

55. Babajko S, Petit S, Fernandes I, Méary F, LeBihan J, Pibouin L, et al. Msx1 expression regulation by its own antisense RNA: consequence on tooth development and bone regeneration. Cells Tissues Organs. 2009;189(1-4):115-21.
http://dx.doi.org/10.1159/000151748

 

56. Babajko S, Méary F, Petit S, Fernandes I, Berdal A. Transcriptional regulation of MSX1 natural antisense transcript. Cells Tissues Organs. 2011;194:151-5.
http://dx.doi.org/10.1159/000324466

 

57. Ogawa T, Kapadia H, Wang B, D'Souza RN. Studies on Pax9-Msx1 protein interactions. Arch Oral Biol. 2005;50:141-5.
http://dx.doi.org/10.1016/j.archoralbio.2004.09.011

 

58. Nakatomi M, Wang XP, Key D, Lund JJ, Turbe-Doan A, Kist R, et al. Genetic interactions between Pax9 and Msx1 regulate lip development and several stages of tooth morphogenesis. Dev Biol. 2010;340:438-49.
http://dx.doi.org/10.1016/j.ydbio.2010.01.031

 

59. Phillips CD, Butler B, Fondon JW 3rd, Mantilla-Meluk H, Baker RJ. Contrasting evolutionary dynamics of the developmental regulator PAX9, among bats, with evidence for a novel post-transcriptional regulatory mechanism. PLoS One. 2013;8:e57649.
http://dx.doi.org/10.1371/journal.pone.0057649

 

60. Line SR. Variation of tooth number in mammalian dentition: connecting genetics, development, and evolution. Evol Dev. 2003;5:295-304.
http://dx.doi.org/10.1046/j.1525-142X.2003.03036.x

 

61. Anderson B, Thompson G, Popovich F. Evolutionary dental changes. Am J PhysAnthropol 1975; 43: 95-102.
http://dx.doi.org/10.1002/ajpa.1330430113