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 families with type II have progressive hearing loss in addition to dental abnormalities. Type III was first identified in a population in Brandywine, Maryland. Some researchers believe that dentinogenesis imperfecta type II and type III, along with a similar condition called dentin dysplasia type II, are actually forms of a single disorder.

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 cause dentinogenesis imperfecta.

Mutations in the DSPP gene have been identified in people with type II and type III dentinogenesis imperfecta. 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.

The DSPP gene provides instructions for making three 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 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 how DSPP mutations are related to hearing loss in some families with dentinogenesis imperfecta type II.

Read more about the DSPP gene.

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.

External Links

Where can I find information about treatment for dentinogenesis imperfecta?

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

• MedlinePlus Encyclopedia: Tooth - abnormal colors

You might also find information on treatment of dentinogenesis imperfecta in Educational resources and Patient support.

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.

• MedlinePlus - Health information (2 links)
• Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases (2 links)
• Additional NIH Resources - National Institutes of Health
• National Institute of Dental and Craniofacial Research
• Educational resources - Information pages (8 links)
• Patient support - For patients and families (4 links)

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

• PubMed - Recent literature
• OMIM - Genetic disorder catalog (3 links)
• What other names do people use for dentinogenesis imperfecta?
• DGI
• Hereditary Opalescent Dentin

See How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about dentinogenesis imperfecta?

• See How can I find a genetics professional in my area? in the Handbook.
• Ask the Genetic and Rare Diseases Information Center.
• Submit your question to Ask the Geneticist.

Where can I find general information about genetic conditions?

The Handbook provides basic information about genetics in clear language.

• What does it mean if a disorder seems to run in my family?
• What are the different ways in which a genetic condition can be inherited?
• If a genetic disorder runs in my family, what are the chances that my children will have the condition?
• Why are some genetic conditions more common in particular ethnic groups?

These links provide additional genetics resources that may be useful.

• Genetics and health
• Resources for Patients and Families
• Resources for Health Professionals

What glossary definitions help with understanding dentinogenesis imperfecta?

autosomal ; autosomal dominant ; cell; dentin ; dentinogenesis ; dysplasia; gene; mutation; osteogenesis; population ; protein; translucent

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. PubMed citation
• 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;132(3):305-9. PubMed citation
• Kantaputra PN. Dentinogenesis imperfecta-associated syndromes. Am J Med Genet. 2001 Nov 15;104(1):75-8. Review. No abstract available. PubMed citation
• 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. PubMed citation
• 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. PubMed citation
• MacDougall M, Dong J, Acevedo AC. Molecular basis of human dentin diseases. Am J Med Genet A. 2006 Dec 1;140(23):2536-46. PubMed citation
• 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. PubMed citation
• 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. PubMed citation
• 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. PubMed citation
• 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. PubMed citation