PAX9 polymorphisms and susceptibility to sporadic tooth agenesis: A case-control study in southeast China

European Journal of Oral Sciences

Volumn 116, Issue 2, 2008, Pages 98-103

  Pan, Yongchu ^a,b   Wang, Lin ^a   Ma, Junqing ^a   Zhang, Weibing ^a   Wang, Meilin ^a   Zhong, Weijie ^a   Huang, You ^a  

^a NANJING MEDICAL UNIVERSITY   (China)

^b MBI biotechnology   (Canada)

Author keywords

Case control study; Molecular epidemiology; PAX9; Polymorphisms; Sporadic tooth agenesis

Indexed keywords

TRANSCRIPTION FACTOR PAX9;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CASE CONTROL STUDY; CHI SQUARE DISTRIBUTION; CHINA; CONGENITAL MALFORMATION; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HUMAN; HYPODONTIA; INCISOR; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ALLELES; AMINO ACID SUBSTITUTION; ANODONTIA; CASE-CONTROL STUDIES; CHI-SQUARE DISTRIBUTION; CHINA; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INCISOR; MALE; PAX9 TRANSCRIPTION FACTOR; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 40849116467     PISSN: 09098836     EISSN: 16000722     Source Type: Journal    
DOI: 10.1111/j.1600-0722.2007.00517.x     Document Type: Article

References (39)

1. Vieira AR, Meira R, Modesto A, Murray JC. MSX1, PAX9, and TGFA contribute to tooth agenesis in humans. J Dent Res 2004 83 : 723 727.
2. Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, Munoz F, Morgan D, Clarke A, Baybayan P, Chen EY, Ezer S, Saarialho-Kere U, de la Chapelle A, Schlessinger D. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 1996 13 : 409 416.
3. Semina EV, Reiter R, Leysens NJ, Alward WL, Small KW, Datson NA, Siegel-Bartelt J, Bierke-Nelson D, Bitoun P, Zabel BU, Carey JC, Murray JC. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 1996 14 : 392 399.
4. Burzynski NJ, Escobar VH. Classification and genetics of numeric anomalies of dentition. Birth Defects Orig Artic Ser 1983 19 : 95 106.
5. Graber LW. Congenital absence of teeth: a review with emphasis on inheritance patterns. J Am Dent Assoc 1978 96 : 266 275.
6. Lavelle CL, Ashton EH, Flinn RM. Cusp pattern, tooth size and third molar agenesis in the human mandibular dentition. Arch Oral Biol 1970 15 : 227 237.
7. Muller TP, Hill IN, Peterson AC, Blayney JR. A survey of congenitally missing permanent teeth. J Am Dent Assoc 1970 81 : 101 107.
8. Polder BJ, Van't Hof MA, Van der Linden FP, Kuijpers-Jagtman AM. A meta-analysis of the prevalence of dental agenesis of permanent teeth. Community Dent Oral Epidemiol 2004 32 : 217 226.
9. Davis PJ. Hypodontia and hyperdontia of permanent teeth in Hong Kong schoolchildren. Community Dent Oral Epidemiol 1987 15 : 218 220.
10. Thesleff I, Nieminen P. Tooth morphogenesis and cell differentiation. Curr Opin Cell Biol 1996 8 : 844 850.
11. Thesleff I, Sharpe P. Signalling networks regulating dental development. Mech Dev 1997 67 : 111 123.
12. Peters H, Neubuser A, Balling R. Pax genes and organogenesis: Pax9 meets tooth development. Eur J Oral Sci 1998 106 (Suppl. 1 38 43.
13. Mensah JK, Ogawa T, Kapadia H, Cavender AC, D'Souza RN. Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans. J Biol Chem 2004 279 : 5924 5933.
14. Peters H, Neubuser 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 2747.
15. Satokata I, Maas R. Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat Genet 1994 6 : 348 356.
16. Peres RC, Scarel-Caminaga RM, do Espirito Santo AR, Line SR. Association between PAX-9 promoter polymorphisms and hypodontia in humans. Arch Oral Biol 2005 50 : 861 871.
17. Botstein D, Risch N. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat Genet 2003 33 (Suppl 228 237.
18. Stephens M, Donnelly P. A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 2003 73 : 1162 1169.
19. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001 68 : 978 989.
20. Vastardis H. The genetics of human tooth agenesis: new discoveries for understanding dental anomalies. Am J Orthod Dentofacial Orthop 2000 117 : 650 656.
21. Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI. Mutation of PAX9 is associated with oligodontia. Nat Genet 2000 24 : 18 19.
22. Nieminen P, Arte S, Tanner D, Paulin L, Alaluusua S, Thesleff I, Pirinen S. Identification of a nonsense mutation in the PAX9 gene in molar oligodontia. Eur J Hum Genet 2001 9 : 743 746.
23. Das P, Stockton DW, Bauer C, Shaffer LG, D'Souza RN, Wright T, Patel PI. Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. Hum Genet 2002 110 : 371 376.
24. Frazier-Bowers SA, Guo DC, Cavender A, Xue L, Evans B, King T, Milewicz D, D'Souza RN. A novel mutation in human PAX9 causes molar oligodontia. J Dent Res 2002 81 : 129 133.
25. 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 A 2003 118 : 35 42.
26. 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. Eur J Hum Genet 2003 11 : 866 871.
27. Mostowska A, Kobielak A, Biedziak B, Trzeciak WH. Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia. Eur J Oral Sci 2003 111 : 272 276.
28. Jumlongras D, Lin JY, Chapra A, Seidman CE, Seidman JG, Maas RL, Olsen BR. A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia. Hum Genet 2004 114 : 242 249.
29. 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 47.
30. 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 2005 40 : 266 270.
31. Mostowska A, Biedziak B, Trzeciak WH. A novel c.581C>T transition localized in a highly conserved homeobox sequence of MSX1: is it responsible for oligodontia? J Appl Genet 2006 47 : 159 164.
32. Mostowska A, Biedziak B, Trzeciak WH. A novel mutation in PAX9 causes familial form of molar oligodontia. Eur J Hum Genet 2006 14 : 173 179.
33. Kapadia H, Frazier-Bowers S, Ogawa T, D'Souza RN. Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis. Eur J Hum Genet 2006 14 : 403 409.
34. Frazier-Bowers SA, Pham KY, Le EV, Cavender AC, Kapadia H, King TM, Milewicz DM, D'Souza RN. A unique form of hypodontia seen in Vietnamese patients: clinical and molecular analysis. J Med Genet 2003 40 : e79.
35. Ahmad W, Brancolini V, ul Faiyaz MF, Lam H, ul Haque S, Haider M, Maimon A, Aita VM, Owen J, Brown D, Zegarelli DJ, Ahmad M, Ott J, Christiano AM. A locus for autosomal recessive hypodontia with associated dental anomalies maps to chromosome 16q12.1. Am J Hum Genet 1998 62 : 987 991.
36. Kolenc-Fuse FJ. Tooth agenesis: in search of mutations behind failed dental development. Med Oral Patol Oral Cir Bucal 2004 9 : 390 395.
37. Gerits A, Nieminen P, De Muynck S, Carels C. Exclusion of coding region mutations in MSX1, PAX9 and AXIN2 in eight patients with severe oligodontia phenotype. Orthod Craniofac Res 2006 9 : 129 136.
38. Vieira AR. Oral clefts and syndromic forms of tooth agenesis as models for genetics of isolated tooth agenesis. J Dent Res 2003 82 : 162 165.
39. Mostowska A, Kobielak A, Trzeciak WH. 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.