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Genetics Home Reference: your guide to understanding genetic conditions
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Dentinogenesis imperfecta

Reviewed November 2009

What is 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.

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 teeth.

How common is dentinogenesis imperfecta?

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

What genes are related to dentinogenesis imperfecta?

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.

Related Gene(s)

Changes in this gene are associated with dentinogenesis imperfecta.

  • DSPP

How do people inherit dentinogenesis imperfecta?

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.

In most cases, an affected person has one parent with the condition.

Where can I find information about diagnosis or management of dentinogenesis imperfecta?

These resources address the diagnosis or management of dentinogenesis imperfecta and may include treatment providers.

  • Genetic Testing Registry: Dentinogenesis imperfecta - Shield's type II (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0205730)
  • Genetic Testing Registry: Dentinogenesis imperfecta - Shield's type III (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0399378)
  • MedlinePlus Encyclopedia: Tooth - abnormal colors (http://www.nlm.nih.gov/medlineplus/ency/article/003065.htm)

You might also find information on the diagnosis or management of dentinogenesis imperfecta in Educational resources (http://ghr.nlm.nih.gov/condition/dentinogenesis-imperfecta/show/Educational+resources) and Patient support (http://ghr.nlm.nih.gov/condition/dentinogenesis-imperfecta/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about dentinogenesis imperfecta?

You may find the following resources about dentinogenesis imperfecta helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for dentinogenesis imperfecta?

  • DGI
  • Hereditary Opalescent Dentin

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about dentinogenesis imperfecta?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/gard).

What glossary definitions help with understanding dentinogenesis imperfecta?

autosomal ; autosomal dominant ; cell ; dentin ; dentinogenesis ; dysplasia ; gene ; hereditary ; inherited ; osteogenesis ; translucent

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Beattie ML, Kim JW, Gong SG, Murdoch-Kinch CA, Simmer JP, Hu JC. Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. J Dent Res. 2006 Apr;85(4):329-33. (http://www.ncbi.nlm.nih.gov/pubmed/16567553?dopt=Abstract)
  • 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 Jan 30;132A(3):305-9. (http://www.ncbi.nlm.nih.gov/pubmed/15690376?dopt=Abstract)
  • Kantaputra PN. Dentinogenesis imperfecta-associated syndromes. Am J Med Genet. 2001 Nov 15;104(1):75-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11746032?dopt=Abstract)
  • 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 imperfecta type II. Hum Genet. 2005 Feb;116(3):186-91. Epub 2004 Dec 8. (http://www.ncbi.nlm.nih.gov/pubmed/15592686?dopt=Abstract)
  • Kim JW, Nam SH, Jang KT, Lee SH, Kim CC, Hahn SH, Hu JC, Simmer JP. A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II. Hum Genet. 2004 Aug;115(3):248-54. Epub 2004 Jul 6. (http://www.ncbi.nlm.nih.gov/pubmed/15241678?dopt=Abstract)
  • MacDougall M, Dong J, Acevedo AC. Molecular basis of human dentin diseases. Am J Med Genet A. 2006 Dec 1;140(23):2536-46. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16955410?dopt=Abstract)
  • 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 Apr;114(5):491-8. Epub 2004 Feb 3. (http://www.ncbi.nlm.nih.gov/pubmed/14758537?dopt=Abstract)
  • McKnight DA, Simmer JP, Hart PS, Hart TC, Fisher LW. Overlapping DSPP mutations 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. (http://www.ncbi.nlm.nih.gov/pubmed/19029076?dopt=Abstract)
  • McKnight DA, Suzanne Hart P, Hart TC, Hartsfield JK, Wilson A, Wright JT, Fisher LW. A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene. Hum Mutat. 2008 Dec;29(12):1392-404. doi: 10.1002/humu.20783. (http://www.ncbi.nlm.nih.gov/pubmed/18521831?dopt=Abstract)
  • Song Y, Wang C, Peng B, Ye X, Zhao G, Fan M, Fu Q, Bian Z. Phenotypes and genotypes in 2 DGI families with different DSPP mutations. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006 Sep;102(3):360-74. Epub 2006 Jun 16. (http://www.ncbi.nlm.nih.gov/pubmed/16920545?dopt=Abstract)
  • 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 2001 Mar;27(3):345. (http://www.ncbi.nlm.nih.gov/pubmed/11175790?dopt=Abstract)
  • Zhang X, Zhao J, Li C, Gao S, Qiu C, Liu P, Wu G, Qiang B, Lo WH, Shen Y. DSPP mutation in dentinogenesis imperfecta Shields type II. Nat Genet. 2001 Feb;27(2):151-2. (http://www.ncbi.nlm.nih.gov/pubmed/11175779?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2009
Published: January 27, 2015