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Genetic and Rare Diseases Information Center (GARD)

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Amelogenesis imperfecta

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Your Question

Does amelogenesis imperfecta have to do with the lack of quantity or quality of tooth enamel?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What causes amelogenesis imperfecta?

Amelogenesis imperfecta is caused by mutations in the AMELX, ENAM, and MMP20 genes. These genes provide instructions for making proteins that are essential for normal tooth development. These proteins are involved in the formation of enamel, which is the hard, calcium-rich material that forms the protective outer layer of each tooth. Mutations in any of these genes alter the structure of these proteins or prevent the genes from making any protein at all. As a result, tooth enamel is abnormally thin or soft and may have a yellow or brown color. Teeth with defective enamel are weak and easily damaged.[1]

In some cases, the genetic cause of amelogenesis imperfecta can not been identified. Researchers are working to find mutations in other genes that are responsible for this disorder.[1]

Click on each gene name to learn more about the role it plays in the development of tooth enamel.

Last updated: 12/12/2013

Is amelogenesis imperfecta the result of a lack of quantity or quality of tooth enamel?

The underlying enamel defects in amelogenesis imperfecta are highly variable. Some affect the amount of enamel produced while others affect the structure or function of the enamel.[1][2]
Last updated: 12/12/2013