dentinogenesis imperfecta

Summary

Summary: An autosomal dominant disorder of tooth development characterized by opalescent dentin resulting in discoloration of the teeth. The dentin develops poorly with low mineral content while the pulp canal is obliterated.

Top Publications

  1. Beattie M, Kim J, Gong S, Murdoch Kinch C, Simmer J, Hu J. Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. J Dent Res. 2006;85:329-33 pubmed
    b>Dentinogenesis imperfecta (DGI) and dentin dysplasia (DD) are allelic disorders that primarily affect the formation of tooth dentin...
  2. Crosby A, Edwards S, Murray J, Dixon M. Genomic organization of the human osteopontin gene: exclusion of the locus from a causative role in the pathogenesis of dentinogenesis imperfecta type II. Genomics. 1995;27:155-60 pubmed
    ..polymorphism isolated at the SPP1 locus showed no recombination with the autosomal dominant disorder dentinogenesis imperfecta type II...
  3. Acevedo A, Santos L, Paula L, Dong J, MacDougall M. Phenotype characterization and DSPP mutational analysis of three Brazilian dentinogenesis imperfecta type II families. Cells Tissues Organs. 2009;189:230-6 pubmed publisher
    ..and dentin sialophosphoprotein (DSPP) mutational analysis on 3 Brazilian families diagnosed with dentinogenesis imperfecta type II (DGI-II) attending the Dental Anomalies Clinic in Brasilia, Brazil...
  4. Li D, Du X, Zhang R, Shen B, Huang Y, Valenzuela R, et al. Mutation identification of the DSPP in a Chinese family with DGI-II and an up-to-date bioinformatic analysis. Genomics. 2012;99:220-6 pubmed publisher
    ..We also analyzed previously reported mutations of DSPP. In summary, our finding supports that the genomic sequence that corresponds to the P17 residue of DSPP is a mutational hotspot and P17 may be critical for the function of DSPP. ..
  5. Xiao S, Yu C, Chou X, Yuan W, Wang Y, Bu L, et al. Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat Genet. 2001;27:201-4 pubmed
    b>Dentinogenesis imperfecta 1 (DGI1, MIM 125490) is an autosomal dominant dental disease characterized by abnormal dentin production and mineralization. The DGI1 locus was recently refined to a 2-Mb interval on 4q21 (ref. 1)...
  6. Sapir S, Shapira J. Dentinogenesis imperfecta: an early treatment strategy. Pediatr Dent. 2001;23:232-7 pubmed
    b>Dentinogenesis imperfecta (DI) type 2 is a disease inherited in a simple autosomal dominant mode. As soon as the teeth erupt the parents may notice the problem and look for a pediatric dentist's advice and treatment...
  7. Kim J, Hu J, Lee J, Moon S, Kim Y, Jang K, et al. Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. Hum Genet. 2005;116:186-91 pubmed
    ..clinical and radiographic findings and consists of two types of dentin dysplasia (DD) and three types of dentinogenesis imperfecta (DGI)...
  8. Tahmassebi J, Day P, Toumba K, Andreadis G. Paediatric dentistry in the new millennium: 6. Dental anomalies in children. Dent Update. 2003;30:534-40 pubmed
    ..Guidelines are provided for clinicians to identify children who deviate from normal dental development in order to provide appropriate interventions or make appropriate referrals. ..
  9. Song Y, Wang C, Peng B, Ye X, Zhao G, Fan M, et al. Phenotypes and genotypes in 2 DGI families with different DSPP mutations. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006;102:360-74 pubmed
    ..in DSPP gene and to define various phenotypes associated with specific DSPP mutations in families with Dentinogenesis Imperfecta type II (DGI-II). Two families with DGI-II were investigated for phenotypes and genotypes...

More Information

Publications62

  1. Lee K, Kang H, Lee S, Yoo S, Lee J, Hwang Y, et al. Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II. Clin Genet. 2011;79:378-84 pubmed publisher
    ..We recruited three Korean families with dentinogenesis imperfecta (DGI) type II and sequenced the exons and exon-intron boundaries of the DSPP gene based on the candidate ..
  2. McKnight D, Suzanne Hart P, Hart T, Hartsfield J, Wilson A, Wright J, et al. A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene. Hum Mutat. 2008;29:1392-404 pubmed publisher
    Within nine dentin dysplasia (DD) (type II) and dentinogenesis imperfecta (type II and III) patient/families, seven have 1 of 4 net -1 deletions within the approximately 2-kb coding repeat domain of the DSPP gene while the remaining two ..
  3. Aplin H, Hirst K, Crosby A, Dixon M. Mapping of the human dentin matrix acidic phosphoprotein gene (DMP1) to the dentinogenesis imperfecta type II critical region at chromosome 4q21. Genomics. 1995;30:347-9 pubmed
    b>Dentinogenesis imperfecta type II (DGI1) is an autosomal dominant disorder of dentin formation, which has been mapped to human chromosome 4q12-q21. The region most likely to contain the DGI1 locus is a 3...
  4. Hart P, Hart T. Disorders of human dentin. Cells Tissues Organs. 2007;186:70-7 pubmed
    ..Thus, these disorders should likely be called DSPP-associated dentin defects, with DD type II representing the mild end of the phenotypic spectrum and DI type III representing the severe end. ..
  5. Kida M, Tsutsumi T, Shindoh M, Ikeda H, Ariga T. De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family. Eur J Oral Sci. 2009;117:691-4 pubmed publisher
    b>Dentinogenesis imperfecta (DGI) type II is one of the most common dominantly inherited dentin defects, in which both the primary and permanent teeth are affected...
  6. Dong J, Gu T, Jeffords L, Macdougall M. Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III. Am J Med Genet A. 2005;132A:305-9 pubmed
    ..within exon 5 of the dentin sialophosphoprotein (DSPP) gene has been identified in a family with dentinogenesis imperfecta type III (DGI-III)...
  7. Kim J, Nam S, Jang K, Lee S, Kim C, Hahn S, et al. A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II. Hum Genet. 2004;115:248-54 pubmed
    ..Clinically, five different patterns of inherited dentin defects are distinguished and are classified as dentinogenesis imperfecta (DGI) types I, II, and III, and dentin dysplasia types I and II...
  8. MacDougall M. Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci. Eur J Oral Sci. 1998;106 Suppl 1:227-33 pubmed
    b>Dentinogenesis imperfecta type II and dentin dysplasia type II are diseases resulting in abnormal dentin formation, which have been mapped to overlapping regions of human chromosome 4q defined by markers D4S2691 and D4S2692 (6...
  9. Zhang X, Chen L, Liu J, Zhao Z, Qu E, Wang X, et al. A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family. BMC Med Genet. 2007;8:52 pubmed
    ..defects of tooth dentin are classified into two main groups: dentin dysplasia (DD) (types I and II) and dentinogenesis imperfecta (DGI) (types I, II, and III)...
  10. Wang H, Hou Y, Cui Y, Huang Y, Shi Y, Xia X, et al. A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II. Mutat Res. 2009;662:22-7 pubmed publisher
    ..that spanned six generations in a Chinese family affected with an apparently autosomal dominant form of dentinogenesis imperfecta type II (DGI-II, OMIM #125490)...
  11. Holappa H, Nieminen P, Tolva L, Lukinmaa P, Alaluusua S. Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II. Eur J Oral Sci. 2006;114:381-4 pubmed
    b>Dentinogenesis imperfecta (DGI) type II (OMIM # 125490) is an inherited disorder affecting dentin. Defective dentin formation results in discolored teeth that are prone to attrition and fracture...
  12. Barron M, McDonnell S, Mackie I, Dixon M. Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia. Orphanet J Rare Dis. 2008;3:31 pubmed publisher
    The hereditary dentine disorders, dentinogenesis imperfecta (DGI) and dentine dysplasia (DD), comprise a group of autosomal dominant genetic conditions characterised by abnormal dentine structure affecting either the primary or both the ..
  13. Witkop C. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol. 1988;17:547-53 pubmed
    ..The classification and prevalence of amelogenesis imperfecta is updated based upon new information in the literature. Problems with the currently used classification of inherited dentin defects are discussed. ..
  14. McKnight D, Simmer J, Hart P, Hart T, Fisher L. Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. J Dent Res. 2008;87:1108-11 pubmed
    b>Dentinogenesis imperfecta (DGI) and dentin dysplasia (DD) are allelic disorders due to mutations in DSPP. Typically, the phenotype breeds true within a family...
  15. Lee S, Lee K, Jeon D, Lee G, Lee H, Shin C, et al. A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II. J Dent Res. 2009;88:51-5 pubmed publisher
    Hereditary dentin defects are divided into dentinogenesis imperfecta and dentin dysplasia. We identified a family segregating severe dentinogenesis imperfecta...
  16. Malmgren B, Lindskog S, Elgadi A, Norgren S. Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II. Hum Genet. 2004;114:491-8 pubmed
    b>Dentinogenesis imperfecta (DI) type II, an inherited disorder affecting dentin, has been linked to mutations in the dentin sialophosphoprotein ( DSPP) gene on chromosome 4q21...
  17. Hirst K, Simmons D, Feng J, Aplin H, Dixon M, MacDougall M. Elucidation of the sequence and the genomic organization of the human dentin matrix acidic phosphoprotein 1 (DMP1) gene: exclusion of the locus from a causative role in the pathogenesis of dentinogenesis imperfecta type II. Genomics. 1997;42:38-45 pubmed
    ..4q21 and shown to exhibit no recombination with the autosomal dominant disorder of dentin formation, dentinogenesis imperfecta type II...
  18. Wang S, Chan H, Rajderkar S, Milkovich R, Uston K, Kim J, et al. Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families. Eur J Oral Sci. 2011;119 Suppl 1:158-67 pubmed publisher
    Dentin sialophosphoprotein (DSPP) mutations cause dentin dysplasia type II (DD-II) and dentinogenesis imperfecta types II and III (DGI-II and DGI-III, respectively)...
  19. Nieminen P, Papagiannoulis Lascarides L, Waltimo Siren J, Ollila P, Karjalainen S, Arte S, et al. Frameshift mutations in dentin phosphoprotein and dependence of dentin disease phenotype on mutation location. J Bone Miner Res. 2011;26:873-80 pubmed publisher
    ..part), the permanent teeth also were affected, and the diseases could be classified as variants of dentinogenesis imperfecta. Attrition was not prominent, but periapical infections were common...
  20. Darendeliler Kaba A, Marechaux S. Hereditary dentinogenesis imperfecta: a treatment program using an overdenture. ASDC J Dent Child. 1992;59:273-6 pubmed
    The aim of treatment in cases of dentinogenesis imperfecta is to improve the esthetic appearance and maintain the oral masticatory apparatus in a healthy and functional state...
  21. George A, Bannon L, Sabsay B, Dillon J, Malone J, Veis A, et al. The carboxyl-terminal domain of phosphophoryn contains unique extended triplet amino acid repeat sequences forming ordered carboxyl-phosphate interaction ridges that may be essential in the biomineralization process. J Biol Chem. 1996;271:32869-73 pubmed
    ..These two domains and the colocalization of Dmp1 and Dmp2 genes at a position equivalent to the dentinogenesis imperfecta type II location on human 4q21 all suggest that the PPs are indeed involved in some aspect of ECM ..
  22. Von Marschall Z, Mok S, Phillips M, McKnight D, Fisher L. Rough endoplasmic reticulum trafficking errors by different classes of mutant dentin sialophosphoprotein (DSPP) cause dominant negative effects in both dentinogenesis imperfecta and dentin dysplasia by entrapping normal DSPP. J Bone Miner Res. 2012;27:1309-21 pubmed publisher
    Families with nonsyndromic dentinogenesis imperfecta (DGI) and the milder, dentin dysplasia (DD), have mutations in one allele of the dentin sialophosphoprotein (DSPP) gene...
  23. Kim J, Simmer J. Hereditary dentin defects. J Dent Res. 2007;86:392-9 pubmed
    ..articulated over 30 years ago, inherited dentin defects are divided into 5 types: 3 types of dentinogenesis imperfecta (DGI), and 2 types of dentin dysplasia (DD). DGI type I is osteogenesis imperfecta (OI) with DGI...
  24. Zhang X, Zhao J, Li C, Gao S, Qiu C, Liu P, et al. DSPP mutation in dentinogenesis imperfecta Shields type II. Nat Genet. 2001;27:151-2 pubmed
    ..mutation (Gln45stop) in exon 3 of the dentin sialophosphoprotein (DSPP) gene in a Chinese family with dentinogenesis imperfecta Shields type II (DGI-II), in which the affected members showed discoloration and severe attrition of ..
  25. Pallos D, Hart P, Cortelli J, Vian S, Wright J, Korkko J, et al. Novel COL1A1 mutation (G559C) [correction of G599C] associated with mild osteogenesis imperfecta and dentinogenesis imperfecta. Arch Oral Biol. 2001;46:459-70 pubmed
    ..through the presentation of a proband concerned about discoloration of her teeth, found to be dentinogenesis imperfecta (DGI). Examination of 36 family members identified 15 individuals with DGI...
  26. Macdougall M, Dong J, Acevedo A. Molecular basis of human dentin diseases. Am J Med Genet A. 2006;140:2536-46 pubmed
    ..have been classified into two major groups with subtypes: dentin dysplasia (DD) types I and II and dentinogenesis imperfecta (DGI) types I-III...
  27. Sreenath T, Thyagarajan T, Hall B, Longenecker G, D SOUZA R, Hong S, et al. Dentin sialophosphoprotein knockout mouse teeth display widened predentin zone and develop defective dentin mineralization similar to human dentinogenesis imperfecta type III. J Biol Chem. 2003;278:24874-80 pubmed
    ..Recently, mutations in this gene were identified in human dentinogenesis imperfecta II (Online Mendelian Inheritance in Man (OMIM) accession number 125490) and in dentin dysplasia II (OMIM ..
  28. Lingaraju N, Nagarathna P, Vijayalakshmi R, Sheshadri P. Osteogenesis imperfecta/lobstein syndrome associated with dentinogenesis imperfecta. J Contemp Dent Pract. 2013;14:140-2 pubmed
    ..The important oral finding in osteogenesis imperfect is the presence of dentinogenesis imperfecta. This article presents a case of osteogenesis imperfecta (type IV B) with dentinogenesis imperfecta ..
  29. Singh M, Singh S. Hereditary opalescent dentin--a case report. J Indian Soc Pedod Prev Dent. 2004;22:144-7 pubmed
    ..The occlusal surfaces were flattened. The clinical and radiographical examination confirmed the case as Hereditary opalescent Dentin. The rationale for early diagnosis and treatment has been discussed. ..
  30. Qu E, Zhang H, Chen L, Gu L. [Mutation analysis of a Chinese family with genetic dentinogenesis imperfecta]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009;26:536-8 pubmed publisher
    To study the genetic etiology of an autosomal dominant dentinogenesis imperfecta in a Chinese family...
  31. Maciejewska I, Chomik E. Hereditary dentine diseases resulting from mutations in DSPP gene. J Dent. 2012;40:542-8 pubmed publisher
    ..review groups the newest results of molecular analyses of DSPP gene for patients diagnosed either with dentinogenesis imperfecta type II/III or dentine dysplasia and tries to link the phenotypes with specific mutations in the DSPP ..
  32. Muraki Y, Tominaga K, Yoshioka I, Fujita M, Khanal A, Matsushita S, et al. Mandibular reconstruction with bone transport in a patient with osteogenesis imperfecta. Int J Oral Maxillofac Surg. 2008;37:870-3 pubmed publisher
    ..bone fragility, multiple fractures, blue sclerae, hearing deficits, skin and ligament laxity, and dentinogenesis imperfecta (DI)...
  33. Roh W, Kang S, Kim S. Multidisciplinary approach for a patient with dentinogenesis imperfecta and anterior trauma. Am J Orthod Dentofacial Orthop. 2010;138:352-60 pubmed publisher
    b>Dentinogenesis imperfecta is an inherited dentinal dysplasia involving several risks for orthodontic treatment...
  34. Gan H, Zhang X, Xu X. [Pedigree analysis and prosthodontic treatment of patients with dentinogenesis imperfecta type II]. Shanghai Kou Qiang Yi Xue. 2009;18:337-41 pubmed
    ..the heritable character and explore the prosthodontic treatment of opalescent dentin, also known as dentinogenesis imperfecta type II(DGI-II)...
  35. Krieger O, Matuliene G, Hüsler J, Salvi G, Pjetursson B, Bragger U. Failures and complications in patients with birth defects restored with fixed dental prostheses and single crowns on teeth and/or implants. Clin Oral Implants Res. 2009;20:809-16 pubmed publisher
    ..From the three groups of patients, the cases with amelogenesis/dentinogenesis imperfecta demonstrated the highest failure and complication rates...
  36. Cabay R. An overview of molecular and genetic alterations in selected benign odontogenic disorders. Arch Pathol Lab Med. 2014;138:754-8 pubmed publisher
    ..These advancements may lead to better prevention and treatment paradigms and improved patient outcomes. ..
  37. Bilge N, Yeşiltepe S, Törenek Ağırman K, Caglayan F, Bilge O. Investigation of prevalence of dental anomalies by using digital panoramic radiographs. Folia Morphol (Warsz). 2018;77:323-328 pubmed publisher
    ..b) size (including microdontia and macrodontia); (c) structure (including amelogenesis imperfecta, dentinogenesis imperfecta and dentin dys-plasia); (d) position (including transposition, ectopia, displacement, impaction and ..
  38. Archard H. Learn to recognize rickets. N Y State Dent J. 2007;73:15 pubmed
  39. Kinney J, Habelitz S, Marshall S, Marshall G. The importance of intrafibrillar mineralization of collagen on the mechanical properties of dentin. J Dent Res. 2003;82:957-61 pubmed
    ..The results of this study raise doubt as to whether mineral concentration alone is a sufficient endpoint for assessing the success or failure of remineralization approaches in restorative dentistry. ..
  40. Zhao J, Zhang X, Wu L, Jia Z, Zhang Q, Xing X. [Chromosome localization of the dentinogenesis imperfecta type II locus]. Zhonghua Kou Qiang Yi Xue Za Zhi. 2002;37:408-11 pubmed
    To investigate the linkage between dentinogenesis imperfecta type II and chromosome 4q21 in a Tianjin-Tanggu family of the Hui nationality. Blood samples were collected from 13 family members...
  41. Bouvier D, Leheis B, Duprez J, Bittar E, Coudert J. Dentinogenesis imperfecta: long-term rehabilitation in a child. J Dent Child (Chic). 2008;75:192-6 pubmed
    The treatment of dentinogenesis imperfecta represents a challenge for the dental practitioner...
  42. Bailleul Forestier I, Berdal A, Vinckier F, de Ravel T, Fryns J, Verloes A. The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement. Eur J Med Genet. 2008;51:383-408 pubmed publisher
    ..We will consider successively syndromic forms of amelogenesis imperfecta or enamel defects, dentinogenesis imperfecta (i.e. osteogenesis imperfecta) and other dentine anomalies...
  43. Sandor G, Carmichael R. Use of dental implants in the management of dental malformations. Atlas Oral Maxillofac Surg Clin North Am. 2008;16:49-59 pubmed publisher
  44. Kamoun Goldrat A, Le Merrer M. [Osteogenesis imperfecta and dentinogenesis imperfecta: diagnostic frontiers and importance in dentofacial orthopedics]. Orthod Fr. 2007;78:89-99 pubmed
    ..Many extra-skeletal manifestations can be noted such as blue sclerotic markings, dentinogenesis imperfecta and impaired hearing or deafness. In most cases, an anomaly of collagen is the cause...
  45. Huber M. Osteogenesis imperfecta. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007;103:314-20 pubmed
    ..The phenotypic presentation varies from mild to lethal. Commonly observed dental abnormalities include dentinogenesis imperfecta and malocclusion...
  46. Sandor G, Carmichael R, Coraza L, Clokie C, Jordan R. Genetic mutations in certain head and neck conditions of interest to the dentist. J Can Dent Assoc. 2001;67:594 pubmed
    ..Knowing the site of the genetic lesion is important in helping clinicians understand the genetic basis for these conditions, and may help in our future understanding of remedies and treatments. ..
  47. Waltimo J, Ranta H, Lukinmaa P. Ultrastructure of dentin matrix in heritable dentin defects. Scanning Microsc. 1995;9:185-97; discussion 197-8 pubmed
    ..Ultrastructural studies can help us to understand the pathogenesis of the different types of heritable dentin defects as well as aid in diagnostics and classification of these diseases. ..
  48. Pemberton T, Mendoza G, Gee J, Patel P. Inherited dental anomalies: a review and prospects for the future role of clinicians. J Calif Dent Assoc. 2007;35:324-6, 328-33 pubmed
  49. Knezevic A, Tarle Z, Panduric V. Esthetic reconstruction of teeth in patient with dentinogenesis imperfecta--a case report. Coll Antropol. 2006;30:231-4 pubmed
    b>Dentinogenesis imperfecta (DI) is the result of a dominant genetic defect and affects both the deciduous and permanent dentitions...
  50. Malmgren B, Norgren S. Dental aberrations in children and adolescents with osteogenesis imperfecta. Acta Odontol Scand. 2002;60:65-71 pubmed
    ..Panoramic radiographs from 49 patients were analyzed. Dentinogenesis imperfecta (DI) type I was found in 27 of 65 patients and was significantly more common in OI type III than in ..
  51. Stephen L, Beighton P. Dental management of severe dentinogenesis imperfecta in a mild form of osteogenesis imperfecta. J Clin Pediatr Dent. 2002;26:131-6 pubmed
    b>Dentinogenesis Imperfecta (DI), in which the teeth are discolored, translucent and brittle, can occur in isolation as a familial trait and as a component of the skeletal dysplasia Osteogenesis Imperfecta (OI)...
  52. Kinney J, Pople J, Driessen C, Breunig T, Marshall G, Marshall S. Intrafibrillar mineral may be absent in dentinogenesis imperfecta type II (DI-II). J Dent Res. 2001;80:1555-9 pubmed
    ..computed tomography (SRCT) and small-angle x-ray scattering (SAXS) were performed on normal and dentinogenesis imperfecta type II (DI-II) teeth...
  53. Nicholls A, Oliver J, McCarron S, Winter G, Pope F. Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta. Hum Mutat. 1996;7:219-27 pubmed
    An eight-year-old boy was referred for dental assessment of dentinogenesis imperfecta, a full clinical examination also revealed joint hypermobility and some features of mild osteogenesis imperfecta although he had suffered few fractures...