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Gene Review

ODT1  -  oligodontia 1

Homo sapiens

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Disease relevance of ODT1


Psychiatry related information on ODT1


High impact information on ODT1

  • Mutation of PAX9 is associated with oligodontia [7].
  • We show that oligodontia and predisposition to cancer are caused by a nonsense mutation, Arg656Stop, in the Wnt-signaling regulator AXIN2 [2].
  • Homozygous Pax9neo mutants (Pax9neo/neo) exhibit hypoplastic or missing lower incisors and third molars, and when combined with the null allele Pax9lacZ, the compound mutants (Pax9neo/lacZ) develop severe forms of oligodontia [3].
  • MSX1-associated oligodontia typically includes missing maxillary and mandibular second bicuspids and maxillary first bicuspids [8].
  • Oligodontia is defined as the congenital absence of 6 or more permanent teeth, excluding the third molar [9].

Chemical compound and disease context of ODT1

  • This article reports the successful treatment of a patient, aged 15 years 8 months, with a Class III malocclusion and oligodontia; a titanium screw was used for absolute anchorage during treatment [10].

Biological context of ODT1

  • A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia [11].
  • A frameshift mutation recently identified within the paired domain of the transcription factor, PAX9, has been linked to a unique form of oligodontia in a single, multigenerational family (Stockton et al., 2000) [12].
  • We now describe the phenotypic and segregation analyses of this remarkable kindred, the initial approach taken to identify a candidate gene involved in this form of oligodontia, and the power of this single-family pedigree to generate significant linkage in a genome search [12].
  • Our novel discovery indicates that the oligodontia and other phenotypes of Rieger syndrome observed in this family are due to this PITX2 mutation, and these data further support the critical role of PIXT2 in tooth morphogenesis [13].
  • The absence of a mutation in exons 1 and 2 of MSX1 suggested that allelic mutations in the coding region of MSX1 are not associated with this phenotypically distinct form of oligodontia [12].

Anatomical context of ODT1


Associations of ODT1 with chemical compounds


Physical interactions of ODT1

  • The R28P mutation dramatically reduces DNA binding of the PAX9 paired domain and supports the hypothesis that loss of DNA binding is the pathogenic mechanism by which the mutation causes oligodontia [11].

Enzymatic interactions of ODT1


Other interactions of ODT1


Analytical, diagnostic and therapeutic context of ODT1


  1. Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Satokata, I., Maas, R. Nat. Genet. (1994) [Pubmed]
  2. Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Lammi, L., Arte, S., Somer, M., Jarvinen, H., Lahermo, P., Thesleff, I., Pirinen, S., Nieminen, P. Am. J. Hum. Genet. (2004) [Pubmed]
  3. Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia. Kist, R., Watson, M., Wang, X., Cairns, P., Miles, C., Reid, D.J., Peters, H. Hum. Mol. Genet. (2005) [Pubmed]
  4. Blepharo-cheilo-dontic (BCD) syndrome. Gorlin, R.J., Zellweger, H., Curtis, M.W., Wiedemann, H.R., Warburg, M., Majewski, F., Gillessen-Kaesbach, G., Prahl-Andersen, B., Zackai, E. Am. J. Med. Genet. (1996) [Pubmed]
  5. Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients. Schulze, B.R., Horn, D., Kobelt, A., Tariverdian, G., Stellzig, A. Am. J. Med. Genet. (1999) [Pubmed]
  6. Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome. Nagai, T., Nishimura, G., Kato, R., Hasegawa, T., Ohashi, H., Fukushima, Y. Am. J. Med. Genet. (1995) [Pubmed]
  7. Mutation of PAX9 is associated with oligodontia. Stockton, D.W., Das, P., Goldenberg, M., D'Souza, R.N., Patel, P.I. Nat. Genet. (2000) [Pubmed]
  8. Novel MSX1 Frameshift Causes Autosomal-dominant Oligodontia. Kim, J.W., Simmer, J.P., Lin, B.P., Hu, J.C. J. Dent. Res. (2006) [Pubmed]
  9. Novel mutation of the initiation codon of PAX9 causes oligodontia. Klein, M.L., Nieminen, P., Lammi, L., Niebuhr, E., Kreiborg, S. J. Dent. Res. (2005) [Pubmed]
  10. Skeletal Class III oligodontia patient treated with titanium screw anchorage and orthognathic surgery. Kuroda, S., Sugawara, Y., Yamashita, K., Mano, T., Takano-Yamamoto, T. American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics. (2005) [Pubmed]
  11. A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia. Jumlongras, D., Lin, J.Y., Chapra, A., Seidman, C.E., Seidman, J.G., Maas, R.L., Olsen, B.R. Hum. Genet. (2004) [Pubmed]
  12. Clinical, radiographic, and genetic evaluation of a novel form of autosomal-dominant oligodontia. Goldenberg, M., Das, P., Messersmith, M., Stockton, D.W., Patel, P.I., D'Souza, R.N. J. Dent. Res. (2000) [Pubmed]
  13. Novel identification of a four-base-pair deletion mutation in PITX2 in a Rieger syndrome family. Wang, Y., Zhao, H., Zhang, X., Feng, H. J. Dent. Res. (2003) [Pubmed]
  14. A missense mutation in PAX9 in a family with distinct phenotype of oligodontia. Lammi, L., Halonen, K., Pirinen, S., Thesleff, I., Arte, S., Nieminen, P. Eur. J. Hum. Genet. (2003) [Pubmed]
  15. Interstitial deletion of 4p15.32p16.3 in a boy with minor anomalies, hearing loss, borderline intelligence, and oligodontia. Kozma, C., Chong, S.S., Meck, J.M. Am. J. Med. Genet. (1999) [Pubmed]
  16. Congenital absence of permanent teeth in a six-generation Chinese kindred. Wang, H., Zhao, S., Zhao, W., Feng, G., Jiang, S., Liu, W., Li, S., Xue, H., He, L. Am. J. Med. Genet. (2000) [Pubmed]
  17. Seckel syndrome associated with oligodontia, microdontia, enamel hypoplasia, delayed eruption, and dentin dysmineralization: a new variant? De Coster, P.J., Verbeeck, R.M., Holthaus, V., Martens, L.C., Vral, A. J. Oral Pathol. Med. (2006) [Pubmed]
  18. Three-dimensional ultrasound evaluation of fetal tooth germs. Ulm, M.R., Kratochwil, A., Ulm, B., Solar, P., Aro, G., Bernaschek, G. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. (1998) [Pubmed]
  19. A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome? Turnpenny, P.D., De Silva, D.C., Gregory, D.W., Gray, E.S., Dean, J.C. Clin. Dysmorphol. (1995) [Pubmed]
  20. MSX1 gene is deleted in Wolf-Hirschhorn syndrome patients with oligodontia. Nieminen, P., Kotilainen, J., Aalto, Y., Knuutila, S., Pirinen, S., Thesleff, I. J. Dent. Res. (2003) [Pubmed]
  21. A novel c.581C>T transition localized in a highly conserved homeobox sequence of MSX1: is it responsible for oligodontia? Mostowska, A., Biedziak, B., Trzeciak, W.H. J. Appl. Genet. (2006) [Pubmed]
  22. Sequence polymorphisms of the EDA and the DL genes in the patients with an X-linked and an autosomal forms of anhidrotic ectodermal dysplasia. Kobielak, A., Kobielak, K., Wiśniewski, S.A., Midro, A.T., Trzeciak, W.H. Folia Histochem. Cytobiol. (2001) [Pubmed]
  23. Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: a newly recognized syndrome. Charrow, J., Poznanski, A.K., Unger, F.M., Robinow, M. Am. J. Med. Genet. (1991) [Pubmed]
  24. Oligodontia of the permanent dentition in two sisters with polycystic ovarian syndrome: case reports. Hattab, F.N., Angmar-Månsson, B. Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics. (1997) [Pubmed]
  25. Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly: report of a new patient with additional findings. Silengo, M., Lerone, M., Romeo, G., Calcagno, E., Martucciello, G., Jasonni, V. Am. J. Med. Genet. (1993) [Pubmed]
  26. Two-year follow-up of a patient with oligodontia treated with implant- and tooth-supported fixed partial dentures: a case report. Giray, B., Akça, K., Iplikçioğlu, H., Akça, E. The International journal of oral & maxillofacial implants. (2003) [Pubmed]
  27. Implant-surgical and prosthetic rehabilitation of patients with multiple dental aplasia: a clinical report. Durstberger, G., Celar, A., Watzek, G. The International journal of oral & maxillofacial implants. (1999) [Pubmed]
  28. Tooth formation in patients with oligodontia. Schalk van der Weide, Y., Prahl-Andersen, B., Bosman, F. The Angle orthodontist. (1993) [Pubmed]
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