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Dentinogenesis imperfecta

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.

Read more about osteogenesis imperfecta.

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.

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.

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.

You might also find information on the diagnosis or management of dentinogenesis imperfecta in Educational resources and Patient support.

General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.

To locate a healthcare provider, see How can I find a genetics professional in my area? 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 and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about dentinogenesis imperfecta?

Where can I find general information about genetic conditions?

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.

See also Understanding Medical Terminology.

References (12 links)

 

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? in the Handbook.

 
Reviewed: November 2009
Published: August 25, 2014