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Yin, N. Dentinogenesis Imperfecta. Encyclopedia. Available online: https://encyclopedia.pub/entry/5303 (accessed on 18 January 2025).
Yin N. Dentinogenesis Imperfecta. Encyclopedia. Available at: https://encyclopedia.pub/entry/5303. Accessed January 18, 2025.
Yin, Nicole. "Dentinogenesis Imperfecta" Encyclopedia, https://encyclopedia.pub/entry/5303 (accessed January 18, 2025).
Yin, N. (2020, December 24). Dentinogenesis Imperfecta. In Encyclopedia. https://encyclopedia.pub/entry/5303
Yin, Nicole. "Dentinogenesis Imperfecta." Encyclopedia. Web. 24 December, 2020.
Dentinogenesis Imperfecta
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/dentinogenesis-imperfecta

Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth.teeth.

genetic conditions

1. Introduction

Researchers have described three types of dentinogenesis imperfecta with similar dental abnormalities. Type I occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle and easily broken. Dentinogenesis imperfecta type II and type III usually occur in people without other inherited disorders. A few older individuals with type II have had progressive high-frequency hearing loss in addition to dental abnormalities, but it is not known whether this hearing loss is related to dentinogenesis imperfecta.

Some researchers believe that dentinogenesis imperfecta type II and type III, along with a condition called dentin dysplasia type II, are actually forms of a single disorder. The signs and symptoms of dentin dysplasia type II are very similar to those of dentinogenesis imperfecta. However, dentin dysplasia type II affects the primary teeth much more than the permanent

2. Frequency

Dentinogenesis imperfecta affects an estimated 1 in 6,000 to 8,000 people.

3. Causes

Mutations in the DSPP gene have been identified in people with dentinogenesis imperfecta type II and type III. Mutations in this gene are also responsible for dentin dysplasia type II. Dentinogenesis imperfecta type I occurs as part of osteogenesis imperfecta, which is caused by mutations in one of several other genes (most often the COL1A1 or COL1A2 genes).

The DSPP gene provides instructions for making two proteins that are essential for normal tooth development. These proteins are involved in the formation of dentin, which is a bone-like substance that makes up the protective middle layer of each tooth. DSPP gene mutations alter the proteins made from the gene, leading to the production of abnormally soft dentin. Teeth with defective dentin are discolored, weak, and more likely to decay and break. It is unclear whether DSPP gene mutations are related to the hearing loss found in a few older individuals with dentinogenesis imperfecta type II.

3.1. The Gene Associated with Dentinogenesis Imperfecta

  • DSPP

4. Inheritance

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

5. Other Names for This Condition

  • DGI
  • hereditary opalescent dentin

References

  1. Beattie ML, Kim JW, Gong SG, Murdoch-Kinch CA, Simmer JP, Hu JC. Phenotypicvariation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. J DentRes. 2006 Apr;85(4):329-33.
  2. Dong J, Gu T, Jeffords L, MacDougall M. Dentin phosphoprotein compoundmutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III.Am J Med Genet A. 2005 Jan 30;132A(3):305-9.
  3. Kantaputra PN. Dentinogenesis imperfecta-associated syndromes. Am J Med Genet.2001 Nov 15;104(1):75-8. Review.
  4. Kim JW, Hu JC, Lee JI, Moon SK, Kim YJ, Jang KT, Lee SH, Kim CC, Hahn SH,Simmer JP. Mutational hot spot in the DSPP gene causing dentinogenesis imperfectatype II. Hum Genet. 2005 Feb;116(3):186-91.
  5. Kim JW, Nam SH, Jang KT, Lee SH, Kim CC, Hahn SH, Hu JC, Simmer JP. A novelsplice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II. Hum Genet. 2004 Aug;115(3):248-54.
  6. Lee SK, Lee KE, Song SJ, Hyun HK, Lee SH, Kim JW. A DSPP mutation causingdentinogenesis imperfecta and characterization of the mutational effect. BiomedRes Int. 2013;2013:948181. doi: 10.1155/2013/948181.
  7. MacDougall M, Dong J, Acevedo AC. Molecular basis of human dentin diseases. AmJ Med Genet A. 2006 Dec 1;140(23):2536-46. Review.
  8. Malmgren B, Lindskog S, Elgadi A, Norgren S. Clinical, histopathologic, andgenetic investigation in two large families with dentinogenesis imperfecta typeII. Hum Genet. 2004 Apr;114(5):491-8.
  9. McKnight DA, Simmer JP, Hart PS, Hart TC, Fisher LW. Overlapping DSPPmutations cause dentin dysplasia and dentinogenesis imperfecta. J Dent Res. 2008 Dec;87(12):1108-11. Erratum in: J Dent Res. 2009 Jan;88(1):95.
  10. McKnight DA, Suzanne Hart P, Hart TC, Hartsfield JK, Wilson A, Wright JT,Fisher LW. A comprehensive analysis of normal variation and disease-causingmutations in the human DSPP gene. Hum Mutat. 2008 Dec;29(12):1392-404. doi:10.1002/humu.20783.
  11. Song Y, Wang C, Peng B, Ye X, Zhao G, Fan M, Fu Q, Bian Z. Phenotypes andgenotypes in 2 DGI families with different DSPP mutations. Oral Surg Oral MedOral Pathol Oral Radiol Endod. 2006 Sep;102(3):360-74.
  12. Xiao S, Yu C, Chou X, Yuan W, Wang Y, Bu L, Fu G, Qian M, Yang J, Shi Y, Hu L,Han B, Wang Z, Huang W, Liu J, Chen Z, Zhao G, Kong X. Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat Genet. 2001 Feb;27(2):201-4. Erratum in: Nat Genet 2001Mar;27(3):345.
  13. Zhang X, Zhao J, Li C, Gao S, Qiu C, Liu P, Wu G, Qiang B, Lo WH, Shen Y. DSPPmutation in dentinogenesis imperfecta Shields type II. Nat Genet. 2001Feb;27(2):151-2.
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Nicole Yin
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