Genetic basis of dental agenesis - Molecular genetics patterning clinical dentistry

Medicina Oral, Patologia Oral y Cirugia Bucal

Volumn 19, Issue 2, 2014, Pages 112-119

  Chhabra, Nidhi ^a   Goswami, Mridula ^a   Chhabra, Anuj ^b  

^a MAULANA AZAD INSTITUTE OF DENTAL SCIENCES   (India)

^b SAFDARJUNG HOSPITAL   (India)

Author keywords

Growth factors; Hypodontia; Mutations; Tooth agenesis

Indexed keywords

AXIN; AXIN 2; BONE MORPHOGENETIC PROTEIN 4; ECTODYSPLASIN A; FIBROBLAST GROWTH FACTOR RECEPTOR 1; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN; LYMPHOID ENHANCER FACTOR 1; TRANSCRIPTION FACTOR MSX1; TRANSCRIPTION FACTOR PAX9; TRANSCRIPTION FACTOR PITX2; UNCLASSIFIED DRUG;

ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME; ACROCEPHALOSYNDACTYLY; COFFIN LOWRY SYNDROME; DENTISTRY; DOWN SYNDROME; FACIOGENITAL DYSPLASIA; GENE MUTATION; HUMAN; HYPODONTIA; MISSENSE MUTATION; MOLECULAR GENETICS; NAIL PATELLA SYNDROME; PROTEIN DOMAIN; REVIEW; SICKLE CELL ANEMIA; SOTOS SYNDROME; VAN DER WOUDE SYNDROME; WNT SIGNALING PATHWAY; GENETICS; MOLECULAR BIOLOGY; SYNDROME; TOOTH DEVELOPMENT;

ANODONTIA; DENTISTRY; HUMANS; MOLECULAR BIOLOGY; ODONTOGENESIS; SYNDROME;

EID: 84896329067     PISSN: 16984447     EISSN: 16986946     Source Type: Journal    
DOI: 10.4317/medoral.19158     Document Type: Review

References (38)

1. Vastardis H. The genetics of human tooth agenesis: new discoveries for understanding dental anomalies. Am J Orthod Dentofacial Orthop. 2000;117:650-6.
2. Albashaireh ZS, Khader YS. The prevalence and pattern of hypo-dontia of the permanent teeth and crown size and shape deformity affecting upper lateral incisors in a sample of Jordanian dental patients. Community Dent Health. 2006;23:239-43.
3. Camilleri S. Maxillary canine anomalies and tooth agenesis. Eur J Orthod. 2005;27:450-6.
4. Calvano Kuchler E, De Andrade Risso P, De Castro Costa M, Modesto A, Vieira AR. Assessing the proposed association between tooth agenesis and taurodontism in 975 paediatric subjects. Int J Pae-diatr Dent. 2008;18:231-4.
5. Endo T, Ozoe R, Yoshino S, Shimooka S. Hypodontia patterns and variations in craniofacial morphology in Japanese orthodontic patients. Angle Orthod. 2006;76:996-1003.
6. Nasman M, Forsberg CM, Dahllof G. Long-term dental development in children after treatment for malignant disease. Eur J Orthod. 1997;19:151-9.
7. Vieira AR, Meira R, Modesto A, Murray JC. MSX1, PAX9, and TGFα contribute to tooth agenesis in humans. J Dent Res. 2004;83:723-7.
8. Kapadia H, Mues G, D'Souza R. Genes affecting tooth morphogenesis. Orthod Craniofac Res. 2007;10:237-44.
9. Hardcastle Z, Mo R, Hui CC, Sharpe PT. The Shh signalling pathway in tooth development: defects in Gli2 and Gli3 mutants. Development. 1998;125:2803-11.
10. Qiu M, Bulfone A, Ghattas I, Meneses JJ, Christensen L, Sharpe PT, et al. Role of the Dlx homeobox genes in proximo-distal patterning of the branchial arches. Mutations of Dlx-1 and Dlx-2 alter morphogenesis of proximal skeletal and soft tissue structures derived from the frst and second arches. Dev Biol. 1997;185:165-84.
11. Lumsden AG. Spatial organization of the epithelium and the role of neural crest cells in the initiation of the mammalian tooth germ. Development. 1988;103:155-69.
12. Peters H, Balling R. Teeth. Where and how to make them. Trends Genet. 1999;15:59-65.
13. Miletich I, Sharpe PT. Normal and abnormal dental development. Hum Mol Genet. 2003;12 Spec No1:R69-R73.
14. Sarkar L, Sharpe PT. Expression of Wnt signalling pathway genes during tooth development. Mech Dev. 1999;85:197-200.
15. Zhao X, Zhang Z, Song Y, Zhang X, Zhang Y, Hu Y, et al. Trans-genically ectopic expression of Bmp4 to the Msx1 mutant dental mesenchyme restores downstream gene expression but represses Shh and Bmp2 in the enamel knot of wild type tooth germ. Mech Dev. 2000;99:29-38.
16. Satokata I, Ma L, Ohshima H, Bei M, Woo I, Nishizawa K, et al. Msx2 defciency in mice causes pleiotropic defects in bone growth and ectodermal organ formation. Nat Genet. 2000;24:391-5.
17. Das P, Stockton DW, Bauer C, Shaffer LG, D'Souza RN, Wright T, et al. Haploinsuffciency of PAX9 is associated with autosomal dominant hypodontia. Hum Genet. 2002;110:371-6.
18. Lin CR, Kioussi C, O'Connell S, Briata P, Szeto D, Liu F, et al. Pitx2 regulates lung asymmetry, cardiac positioning and pituitary and tooth morphogenesis. Nature. 1999;401:279-82.
19. D'Souza RN, Aberg T, Gaikwad J, Cavender A, Owen M, Karsen-ty G, et al. Cbfa1 is required for epithelial-mesenchymal interactions regulating tooth development in mice. Development. 1999;126:2911-20.
20. Burzynski NJ, Escobar VH. Classifcation and genetics of numeric anomalies of dentition. Birth Defects Orig Artic Ser. 1983;19:95-106.
21. Hewitt JE, Clark LN, Ivens A, Williamson R. Structure and sequence of the human homeobox gene HOX7. Genomics. 1991;11:670-8.
22. Jowett AK, Vainio S, Ferguson MW, Sharpe PT, Thesleff I. Ep-ithelial-mesenchymal interactions are required for msx1 and msx2 gene expression in the developing murine molar tooth. Development. 1993;117: 4 61-70.
23. Hu G, Vastardis H, Bendall AJ, Wang Z, Logan M, Zhang H, et al. Haploinsuffciency of Msx1: a mechanism for selective tooth agenesis. Mol Cell Biol. 1998;18:6044-51.
24. Underhill DA. Genetic and biochemical diversity in the Pax gene family. Biochem Cell Biol. 2000;78:629-38.
25. Chi N, Epstein JA. Getting your Pax straight: Pax proteins in development and disease. Trends Genet. 2002;18:41-7.
26. Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI. Mutation of PAX9 is associated with oligodontia. Nat Genet. 2000;24:18-9.
27. Nieminen P, Arte S, Tanner D, Paulin L, Alaluusua S, Thesleff I, et al. Identifcation of a nonsense mutation in the PAX9 gene in molar oligodontia. Eur J Hum Genet. 2001;9:743-6.
28. Ogawa T, Kapadia H, Wang B, D'Souza RN. Studies on Pax9-Msx1 protein interactions. Arch Oral Biol. 2005;50:141-5.
29. Lammi L, Arte S, Somer M, Jarvinen H, Lahermo P, Thesleff I, et al. Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet. 2004;74:1043-50.
30. Sarkar L, Sharpe PT. Expression of Wnt signalling pathway genes during tooth development. Mech Dev. 1999;85:197-200.
31. Noor A, Windpassinger C, Vitcu I, Orlic M, Rafq MA, Khalid M, et al. Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. Am J Hum Genet. 2009;84:519-23.
32. Han D, Gong Y, Wu H, Zhang X, Yan M, Wang X, et al. Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis. Eur J Med Genet. 2008;51:536-46.
33. Davies AF, Stephens RJ, Olavesen MG, Heather L, Dixon MJ, Magee A, et al. Evidence of a locus for oro-facial clefting on human chromosome 6p24 and STS content map of the region. Hum Mol Genet. 1995;4:121-8.
34. Park JW, McIntosh I, Hetmanski JB, Jabs EW, Vander Kolk CA, Wu-Chou YH, et al. Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. Genet Med. 2007;9:219-27.
35. Kere J, Srivastava AK, Montonen O. X-linked anhidrotic (hy-pohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet. 1996;13:409-16.
36. Qumsiyeh MB. EEC syndrome (ectrodactyly, ectodermal dyspla-sia and cleft lip/palate) is on 7p11.2-q21.3. Clin Genet. 1992;42:101.
37. O'Quinn JR, Hennekam RCM, Jorde LB, Bamshad M. Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. Am J Hum Genet. 1998;62:130-5.
38. Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, et al. Identifcation of the gene for oral-facial-digital type I syndrome. Am J Hum Genet. 2001;68:569-76.