Genomes and Genes
Summary: Congenital absence of the teeth; it may involve all (total anodontia) or only some of the teeth (partial anodontia, hypodontia), and both the deciduous and the permanent dentition, or only teeth of the permanent dentition. (Dorland, 27th ed)
- Créton M, Cune M, Verhoeven W, Meijer G. Patterns of missing teeth in a population of oligodontia patients. Int J Prosthodont. 2007;20:409-13 pubmed..Evaluation of treatment strategies in oligodontia patients is a methodologic challenge because homogenous, comparable subgroups of patients are not available. ..
- Polder B, van t Hof M, Van der Linden F, Kuijpers Jagtman A. A meta-analysis of the prevalence of dental agenesis of permanent teeth. Community Dent Oral Epidemiol. 2004;32:217-26 pubmed..Absence of one or two permanent teeth is found in 83% of the subjects with dental agenesis. A practical application of the results of the meta-analysis is the estimation of dental treatment need. ..
- Jumlongras D, Lin J, Chapra A, Seidman C, Seidman J, Maas R, et al. A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia. Hum Genet. 2004;114:242-9 pubmed..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. ..
- Sletten D, Smith B, Southard K, Casko J, Southard T. Retained deciduous mandibular molars in adults: a radiographic study of long-term changes. Am J Orthod Dentofacial Orthop. 2003;124:625-30 pubmed..16 mm), and only 6 teeth underwent a change in restoration status. Based on this study in adults and earlier studies in adolescents, we conclude that retaining healthy deciduous mandibular second molars is a viable treatment alternative. ..
- Nunn J, Carter N, Gillgrass T, Hobson R, Jepson N, Meechan J, et al. The interdisciplinary management of hypodontia: background and role of paediatric dentistry. Br Dent J. 2003;194:245-51 pubmed..Lastly there is consideration of the role of the paediatric dentist in interdisciplinary management of the affected child and adolescent patient. ..
- Vastardis H. The genetics of human tooth agenesis: new discoveries for understanding dental anomalies. Am J Orthod Dentofacial Orthop. 2000;117:650-6 pubmed..Identification of genetic mutations in families with tooth agenesis or other dental anomalies will enable preclinical diagnosis and permit improved orthodontic treatment. ..
- Tallon Walton V, Manzanares Céspedes M, 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 pubmed..This fact underscores the importance that other presently unknown genes and developmental factors have in tooth development and in the etiology of dental anomalies. ..
- Ben Bassat Y, Brin I. Skeletodental patterns in patients with multiple congenitally missing teeth. Am J Orthod Dentofacial Orthop. 2003;124:521-5 pubmed..It was concluded that patients with multiple CMT demonstrate a characteristic skeletodental pattern, especially those with missing incisors. ..
- De Coster P, Marks L, Martens L, Huysseune A. Dental agenesis: genetic and clinical perspectives. J Oral Pathol Med. 2009;38:1-17 pubmed publisher..These new perspectives and future challenges in the field of identification of possible candidate genes involved in dental agenesis are discussed. ..
- Kim J, Simmer J, Lin B, Hu J. Novel MSX1 frameshift causes autosomal-dominant oligodontia. J Dent Res. 2006;85:267-71 pubmed
- 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;9:129-36 pubmed..Recent evidence of PAX9-MSX1 protein interactions in odontogenesis as well as other genes and developmental factors should receive more attention. ..
- Tao R, Jin B, Guo S, Qing W, Feng G, Brooks D, et al. A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. J Hum Genet. 2006;51:498-502 pubmed..In addition, 33% (3/9) of female carriers have a skewed X-chromosome inactivation pattern. Our result strongly suggests that the c.193C>G mutation is the disease-causing mutation in this family. ..
- Stockton D, Das P, Goldenberg M, D Souza R, Patel P. Mutation of PAX9 is associated with oligodontia. Nat Genet. 2000;24:18-9 pubmed
- Vastardis H, Karimbux N, Guthua S, Seidman J, Seidman C. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet. 1996;13:417-21 pubmed..We propose that the Arg31 Pro mutatrion comprises MSX1 interactions, and suggest that MSX1 functions are critical for normal development of specific human teeth. ..
- van den Boogaard M, Dorland M, Beemer F, van Amstel H. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat Genet. 2000;24:342-3 pubmed
- Jumlongras D, Bei M, Stimson J, Wang W, DePalma S, Seidman C, et al. A nonsense mutation in MSX1 causes Witkop syndrome. Am J Hum Genet. 2001;69:67-74 pubmed
- Das P, Hai M, Elcock C, Leal S, Brown D, Brook A, et al. Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia. Am J Med Genet A. 2003;118A:35-42 pubmed..These studies extend the spectrum of mutations in PAX9 associated with hypodontia to include heretofore undescribed categories, including missense mutations. ..
- Mostowska A, Kobielak A, Trzeciak W. Molecular basis of non-syndromic tooth agenesis: mutations of MSX1 and PAX9 reflect their role in patterning human dentition. Eur J Oral Sci. 2003;111:365-70 pubmed..This paper aims to review current literature about the molecular mechanisms responsible for selective tooth agenesis in humans. ..
- Harris E, Clark L. Hypodontia: an epidemiologic study of American black and white people. Am J Orthod Dentofacial Orthop. 2008;134:761-7 pubmed publisher..Extrapolations from the literature, based largely of studies of white subjects, do not readily apply to American blacks or, potentially, to other racial groups. ..
- Peres R, Scarel Caminaga R, do Espírito Santo A, Line S. Association between PAX-9 promoter polymorphisms and hypodontia in humans. Arch Oral Biol. 2005;50:861-71 pubmed..These results indicate that polymorphisms in the promoter region of PAX 9 gene may have an influence on the transcriptional activity of this gene and are associated with hypodontia in humans. ..
- Matalova E, Fleischmannova J, Sharpe P, Tucker A. Tooth agenesis: from molecular genetics to molecular dentistry. J Dent Res. 2008;87:617-23 pubmed..In this paper, the genetic and molecular bases of non-syndromic and syndromic hypodontia are reviewed, and the advantages and disadvantages of tissue engineering in the clinical treatment of tooth agenesis are discussed...
- Mostowska A, Kobielak A, Biedziak B, Trzeciak W. Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia. Eur J Oral Sci. 2003;111:272-6 pubmed..Our results support the view that mutations in PAX9 could constitute a causative factor of oligodontia. We hypothesize that the G151A transition in PAX9 might be responsible for the sporadic form of tooth agenesis in this patient. ..
- Fleischmannova J, Matalova E, Tucker A, Sharpe P. Mouse models of tooth abnormalities. Eur J Oral Sci. 2008;116:1-10 pubmed publisher..This review aims to summarize recent knowledge obtained in mouse models, which can be used to gain a better understanding of the molecular basis of human dental abnormalities. ..
- Dhanrajani P. Hypodontia: etiology, clinical features, and management. Quintessence Int. 2002;33:294-302 pubmed..One case of mild-to-moderate hypodontia and one case of severe hypodontia are described. Osseointegrated implants have provided encouraging results, especially in patients who are missing anterior teeth or who have severe hypodontia. ..
- Kinzer G, Kokich V. Managing congenitally missing lateral incisors. Part II: tooth-supported restorations. J Esthet Restor Dent. 2005;17:76-84 pubmed..This article is the second of a three-part series discussing the three treatment alternatives for replacing congenitally missing lateral incisors. ..
- Kist R, Watson M, Wang X, Cairns P, Miles C, Reid D, 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 pubmed
- 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;11:866-71 pubmed..A mutation of the homologous arginine of PAX6 has been shown to affect the target DNA specificity of PAX6. We suggest that a similar mechanism explains these distinct oligodontia phenotypes. ..
- Klein M, 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 pubmed..This is the first mutation found in the initiation codon of PAX9, and we suggest that it causes haploinsufficiency. ..
- Arte S, Nieminen P, Apajalahti S, Haavikko K, Thesleff I, Pirinen S. Characteristics of incisor-premolar hypodontia in families. J Dent Res. 2001;80:1445-50 pubmed..We conclude that incisor-premolar hypodontia is a genetic condition with autosomal-dominant transmission and that it is associated with several other dental abnormalities. ..
- Nieminen P, Arte S, Tanner D, Paulin L, Alaluusua S, Thesleff I, et al. Identification of a nonsense mutation in the PAX9 gene in molar oligodontia. Eur J Hum Genet. 2001;9:743-6 pubmed..The phenotype is presumably a consequence of haploinsufficiency of PAX9. In another Finnish family with molar tooth agenesis, we could not find similar sequence changes in PAX9. ..
- 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 pubmed..Our findings introduce a new gene for hereditary colorectal cancer and suggest that tooth agenesis may be an indicator of cancer susceptibility. ..
- Abbo B, Razzoog M. Management of a patient with hypodontia, using implants and all-ceramic restorations: a clinical report. J Prosthet Dent. 2006;95:186-9 pubmed..A 4-unit zirconium fixed partial denture was fabricated to restore the missing mandibular central incisors. ..
- Kapadia H, Mues G, D SOUZA R. Genes affecting tooth morphogenesis. Orthod Craniofac Res. 2007;10:237-44 pubmed..We have also identified families with tooth agenesis in whom PAX9 and MSX1 mutations have been excluded opening up the possibilities for the discovery of other genes that contribute to human tooth agenesis. ..
- Frazier Bowers S, Guo D, Cavender A, Xue L, Evans B, King T, et al. A novel mutation in human PAX9 causes molar oligodontia. J Dent Res. 2002;81:129-33 pubmed..Our results support the conclusion that molar oligodontia is due to allelic heterogeneity in PAX9, and these data further corroborate the role of PAX9 as an important regulator of molar development. ..
- Kirzioglu Z, Koseler Sentut T, Ozay Ertürk M, Karayilmaz H. Clinical features of hypodontia and associated dental anomalies: a retrospective study. Oral Dis. 2005;11:399-404 pubmed
- Xuan K, Jin F, Liu Y, Yuan L, Wen L, Yang F, et al. Identification of a novel missense mutation of MSX1 gene in Chinese family with autosomal-dominant oligodontia. Arch Oral Biol. 2008;53:773-9 pubmed publisher..347C>G. Our finding suggests the missense transversion (c.662C>A) and the polymorphisms (c.347C>G) may be responsible for oligodontia phenotype in this Chinese family. ..
- Pan Y, Wang L, Ma J, Zhang W, Wang M, Zhong W, et al. PAX9 polymorphisms and susceptibility to sporadic tooth agenesis: a case-control study in southeast China. Eur J Oral Sci. 2008;116:98-103 pubmed publisher..These results suggest that the four PAX9 polymorphisms alone have a non-significant main effect on the risk of tooth agenesis but that the AGGC haplotype may have a protective effect associated with a decreased risk of tooth agenesis. ..
- Savarrio L, McIntyre G. To open or to close space--that is the missing lateral incisor question. Dent Update. 2005;32:16-8, 20-2, 24-5 pubmed..Where space opening is not feasible, practical or desirable, any residual spacing can be closed using fixed appliances and the permanent maxillary canines modified to resemble lateral incisors. ..
- Larmour C, Mossey P, Thind B, Forgie A, Stirrups D. Hypodontia--a retrospective review of prevalence and etiology. Part I. Quintessence Int. 2005;36:263-70 pubmed..However, variable expression of the trait suggests a polygenic mode of inheritence with epistatic genes and environmental factors interacting. ..
- Mattheeuws N, Dermaut L, Martens G. Has hypodontia increased in Caucasians during the 20th century? A meta-analysis. Eur J Orthod. 2004;26:99-103 pubmed..However, this meta-analysis seems to confirm that hypodontia has been diagnosed more often in recent studies. ..
- Hobson R, Carter N, Gillgrass T, Jepson N, Meechan J, Nohl F, et al. The interdisciplinary management of hypodontia: the relationship between an interdisciplinary team and the general dental practitioner. Br Dent J. 2003;194:479-82 pubmed..It will demonstrate how an interdisciplinary team works for hypodontia patients and, in particular, for those with severe hypodontia. ..
- Das P, Stockton D, Bauer C, Shaffer L, D Souza R, Wright T, et al. Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. Hum Genet. 2002;110:371-6 pubmed..PAX9 is one of two genes, and the only odontogenic gene within the deletion interval, thus supporting the model of haploinsufficiency for PAX9 as the underlying basis for hypodontia. ..
- Jepson N, Nohl F, Carter N, Gillgrass T, Meechan J, Hobson R, et al. The interdisciplinary management of hypodontia: restorative dentistry. Br Dent J. 2003;194:299-304 pubmed..The paper describes the general restorative considerations common to patients with hypodontia and illustrates the variety of restorative techniques available in the restorative management of hypodontia and oligodontia. ..
- 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 A. 2007;143A:2592-7 pubmed..The R47W mutation dramatically reduced DNA binding suggesting that the mutant protein with consequent haploinsufficiency results in a clinical phenotype. ..
- Holst S, Geiselhoringer H, Nkenke E, Blatz M, Holst A. Updated implant-retained restorative solutions in patients with hypodontia. Quintessence Int. 2008;39:797-802 pubmed..Choosing appropriate treatment techniques and materials will result in long-term clinical function, stability, and esthetic success. ..
- Song S, Han D, Qu H, Gong Y, Wu H, Zhang X, et al. EDA gene mutations underlie non-syndromic oligodontia. J Dent Res. 2009;88:126-31 pubmed publisher..Three novel EDA mutations (p.Ala259Glu, p. Arg289Cys, and p.Arg334His) were identified in four individuals (27%). A genetic defect in the EDA gene could result in non-syndromic oligodontia in affected males. ..
- Forgie A, Thind B, Larmour C, Mossey P, Stirrups D. Management of hypodontia: restorative considerations. Part III. Quintessence Int. 2005;36:437-45 pubmed..A range of treatment options, including implants, adhesive techniques, and removable prostheses, are covered. The investigators have detailed the clinical indications, and noted their relative advantages and disadvantages. ..
- Wang Y, Wu H, Wu J, Zhao H, Zhang X, Mues G, et al. Identification and functional analysis of two novel PAX9 mutations. Cells Tissues Organs. 2009;189:80-7 pubmed publisher..Our finding that the severity of tooth agenesis in the patients was correlated to the DNA-binding capacity of the mutated PAX9 9proteins supports the hypothesis that DNA binding is responsible for the genetic defect. ..
- Murdock S, Lee J, Guckes A, Wright J. A costs analysis of dental treatment for ectodermal dysplasia. J Am Dent Assoc. 2005;136:1273-6 pubmed..Dental treatment for ED had a marked financial impact on patients and their families and varied depending on the type and duration of treatment. ..
- Potic A, Brais B, Choquet K, Schiffmann R, Bernard G. 4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations. Arch Neurol. 2012;69:920-3 pubmed
- Benito P, Trushkowsky R, Magid K, David S. Fiber-reinforced framework in conjunction with porcelain veneers for the esthetic replacement of a congenitally missing maxillary lateral incisor: a case study. Oper Dent. 2012;37:576-83 pubmed publisher..The key learning points of the article are the following: proper diagnosis, treatment plan and appropriate utilization of materials are mandatory for a successful result. ..