Familial human hypodontia - Is it all in the genes?

British Dental Journal

Volumn 203, Issue 4, 2007, Pages 203-208

  Cobourne, M T ^a  

^a GUY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AXIN2 PROTEIN, HUMAN; CYTOSKELETON PROTEIN; MSX1 PROTEIN, HUMAN; MSX1 PROTEIN, MOUSE; PAIRED BOX TRANSCRIPTION FACTOR; PAX9 PROTEIN, HUMAN; PAX9 PROTEIN, MOUSE; TRANSCRIPTION FACTOR MSX1; TRANSCRIPTION FACTOR PAX9; UNCLASSIFIED DRUG;

ANIMAL; ARTICLE; GENETICS; HUMAN; HYPODONTIA; MOUSE; TOOTH DEVELOPMENT;

ANIMALS; ANODONTIA; CYTOSKELETAL PROTEINS; HUMANS; MICE; MSX1 TRANSCRIPTION FACTOR; ODONTOGENESIS; PAIRED BOX TRANSCRIPTION FACTORS; PAX9 TRANSCRIPTION FACTOR;

EID: 34548256247     PISSN: 00070610     EISSN: 17417503     Source Type: Journal    
DOI: 10.1038/bdj.2007.732     Document Type: Article

References (63)

1. Cobourne M T, Sharpe P T. Tooth and jaw: molecular mechanisms of patterning in the first branchial arch. Arch Oral Biol 2003; 48: 1-14.
2. Jernvall J, Thesleff I. Reiterative signaling and patterning during mammalian tooth morphogenesis. Mech Dev 2000; 92: 19-29.
3. Tucker A, Sharpe P. The cutting-edge of mammalian development; how the embryo makes teeth. Nat Rev Genet 2004; 5: 499-508.
4. Mostowska A, Kobielak A, Trzeciak W H. Molecular basis of non-syndromic tooth agenesis: mutations of MSX1 and PAX9 reflect their role in patterning human dentition. Eur J Oral Sci 2003; 111: 365-370.
5. Vastardis H. The genetics of human tooth agenesis: new discoveries for understanding dental anomalies. Am J Orthod Dentofacial Orthop 2000; 117: 650-656.
6. Arte S, Pirinen S. Hypodontia. http://wwworphanet/data/patho/GB/uk- hypodontiapdf. Orphanet 2004.
7. Nieminen P, Arte S, Pirinen S et al. Gene defect in hypodontia: exclusion of MSX1 and MSX2 as candidate genes. Hum Genet 1995; 96: 305-308.
8. Online Mendelian Inheritance in Man (OMIM) http://www.ncbi.nlm.nih.gov/ entrez/query.fcgi?db=OMIM. 2007.
9. Alvesalo L, Portin P. The inheritance pattern of missing, peg-shaped and strongly mesio-distally reduced upper lateral incisors. Acta Odontol Scand 1969; 27: 563-575.
10. Arte S, Nieminen P, Apajalahti S et al. Characteristics of incisor-premolar hypodontia in families. J Dent Res 2001; 80: 1445-1450.
11. Goldenberg M, Das P, Messersmith M et al. Clinical, radiographic, and genetic evaluation of a novel form of autosomal-dominant oligodontia. J Dent Res 2000; 79: 1469-1475.
12. Vastardis H, Karimbux N, Guthua S W et al. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet 1996; 13: 417-421.
13. Ahmad W, Brancolini V, ul Faiyaz M F et al. A locus for autosomal recessive hypodontia with associated dental anomalies maps to chromosome 16q12.1. Am J Hum Genet 1998; 62: 987-991.
14. Pirinen S, Kentala A, Nieminen P et al. Recessively inherited lower incisor hypodontia. J Med Genet 2001; 38: 551-556.
15. Erpenstein H, Pfeiffer R A. Sex-linked-dominant hereditary reduction in number of teeth. Humangenetik 1967; 4: 280-293.
16. Brook A H. A unifying aetiological explanation for anomalies of human tooth number and size. Arch Oral Biol 1984; 29: 373-378.
17. Suarez B K, Spence M A. The genetics of hypodontia. J Dent Res 1974; 53: 781-785.
18. Morgan C, Howe L. The restorative management of hypodontia with implants: I. Overview of alternative treatment options. Dent Update 2003; 30: 562-568.
19. Morgan C, Howe L. The restorative management of hypodontia with implants: 2. Planning and treatment with implants. Dent Update 2004; 31: 22-30.
20. Gorlin RJ, Herman N G, Moss S J. Complete absence of the permanent dentition: an autosomal recessive disorder. Am J Med Genet 1980; 5: 207-209.
21. Sarnas K V, Rune B. The facial profile in advanced hypodontia: a mixed longitudinal study of 141 children. Eur J Orthod 1983; 5: 133-143.
22. Schalk-van der Weide Y, Beemer F A, Faber J A et al. Symptomatology of patients with oligodontia. J Oral Rehabil 1994; 21: 247-261.
23. Neal J J, Bowden D E. The diagnostic value of panoramic radiographs in children aged nine to ten years. Br J Orthod 1988; 15: 193-197.
24. Simons A L, Stritzel F, Stamatiou J. Anomalies associated with hypodontia of the permanent lateral incisors and second premolar. J Clin Pediatr Dent 1993; 17: 109-111.
25. Gene Expression in Tooth. http://bite-it.helsinki.fi.
26. Arte S, Nieminen P, Pirinen S et al. Gene defect in hypodontia: exclusion of EGF, EGFR, and FGF-3 as candidate genes. J Dent Res 1996; 75: 1346-1352.
27. MacKenzie A, Ferguson M W, Sharpe P T. Hox-7 expression during murine craniofacial development. Development 1991; 113: 601-611.
28. Tucker A S, Al Khamis A, Sharpe P T. Interactions between Bmp-4 and Msx-1 act to restrict gene expression to odontogenic mesenchyme. Dev Dyn 1998; 212: 533-539.
29. Satokata I, Maas R. Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat Genet 1994; 6: 348-356.
30. Neubüser A, Peters H, Balling R et al. Antagonistic interactions between FGF and BMP signaling pathways: a mechanism for positioning the sites of tooth formation. Cell 1997; 90: 247-255.
31. Peters H, Neubuser A, Kratochwil K et al. Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. Genes Dev 1998; 12: 2735-2747.
32. Lidral A C, Reising B C. The role of MSX1 in human tooth agenesis. J Dent Res 2002; 81: 274-278.
33. van den Boogaard M J, Dorland M, Beemer F A et al. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat Genet 2000; 24: 342-343.
34. Jumlongras D, Bei M, Stimson J M et al. A nonsense mutation in MSX1 causes Witkop syndrome. Am J Hum Genet 2001; 69: 67-74.
35. Scarel R M, Trevilatto P C, Di Hipolito O, Jr. et al. Absence of mutations in the homeodomain of the MSX1 gene in patients with hypodontia. Am J Med Genet 2000; 92: 346-349.
36. Hu G, Vastardis H, Bendall A J et al. Haploinsufficiency of MSX1: a mechanism for selective tooth agenesis. Mol Cell Biol 1998; 18: 6044-6051.
37. Kim J W, Simmer J P, Lin B P et al. Novel MSX1 Frameshift causes autosomal-dominant oligodontia. J Dent Res 2006; 85: 267-271.
38. Stockton D W, Das P, Goldenberg M et al. Mutation of PAX9 is associated with oligodontia. Nat Genet 2000; 24: 18-19.
39. Nieminen P, Arte S, Tanner D et al. Identification of a nonsense mutation in the PAX9 gene in molar oligodontia. Eur J Hum Genet 2001; 9: 743-746.
40. Frazier-Bowers S A, Guo D C, Cavender A et al. A novel mutation in human PAX9 causes molar oligodontia. J Dent Res 2002; 81: 129-133.
41. Das P, Hai M, Elcock C et al. 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.
42. Mostowska A, Kobielak A, Biedziak B et al. Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia. Eur J Oral Sci 2003; 111: 272-276.
43. Mostowska A, Biedziak B, Trzeciak W H. A novel mutation in PAX9 causes familial form of molar oligodontia. Eur J Hum Genet 2006; 14: 173-179.
44. Peres R C, Scarel-Caminaga R M, do Espirito Santo A R et al. Association between PAX-9 promoter polymorphisms and hypodontia in humans. Arch Oral Biol 2005; 50: 861-871.
45. Mensah J K, Ogawa T, Kapadia H et al. Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans. J Biol Chem 2004; 279: 5924-5933.
46. Das P, Stockton D W, Bauer C et al. Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. Hum Genet 2002; 110: 371-376.
47. Chen Y, Bei M, Woo I et al. Msx1 controls inductive signaling in mammalian tooth morphogenesis. Development 1996; 122: 3035-3044.
48. Vieira A R, Meira R, Modesto A et al. MSX1, PAX9, and TGFA contribute to tooth agenesis in humans. J Dent Res 2004; 83: 723-727.
49. Ogawa T, Kapadia H, Wang B et al. Studies on Pax9-Msx1 protein interactions. Arch Oral Biol 2005; 50: 141-145.
50. Lammi L, Arte S, Somer M et al. Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet 2004; 74: 1043-1050.
51. Sarkar L, Sharpe P T. Expression of Wnt signalling pathway genes during tooth development. Mech Dev 1999; 85: 197-200.
52. Sarkar L, Cobourne M, Naylor S et al. Wnt/Shh interactions regulate ectodermal boundary formation during mammalian tooth development. Proc Natl Acad Sci USA 2000; 97: 4520-4524.
53. van Genderen C, Okamura R M, Farinas I et al. Development of several organs that require inductive epithelial-mesenchymal interactions is impaired in LEF-1-deficient mice. Genes Dev 1994; 8: 2691-2703.
54. Mostowska A, Biedziak B, Jagodzinski P P. Axis inhibition protein 2 (AXIN2) polymorphisms may be a risk factor for selective tooth agenesis. J Hum Genet 2006; 51: 262-266.
55. Sharpe P T. Homeobox genes and orofacial development. Connect Tissue Res 1995; 32: 17-25.
56. Sharpe P T. Neural crest and tooth morphogenesis. Adv Dent Res 2001; 15: 4-7.
57. Thesleff I. Two genes for missing teeth. Nat Genet 1996; 13: 379-380.
58. Kere J, Srivastava A K, Montonen O et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 1996; 13: 409-416.
59. Amiel J, Bougeard G, Francannet C et al. TP63 gene mutation in ADULT syndrome. Eur J Hum Genet 2001; 9: 642-645.
60. van Bokhoven H, Hamel B C, Bamshad M et al. p63 Gene mutations in eec syndrome, limbmammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet 2001; 69: 481-492.
61. Colige A, Sieron A L, Li S W et al. Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I Nproteinase gene. Am J Hum Genet 1999; 65: 308-317.
62. Smahi A, Courtois G, Vabres P et al. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 2000; 405: 466-472.
63. Semina E V, Reiter R, Leysens N J et al. Cloning and characterisation of a novel bicoidrelated homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 1996; 14: 392-399.