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.
Click on each gene name to learn more about the role it plays in the development of tooth enamel.
Amelogenesis imperfecta can have different patterns of inheritance, depending on the gene that is altered. Most cases are caused by mutations in the ENAM gene and are inherited in an autosomal dominant pattern. This type of inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder.
Amelogenesis imperfecta may also be inherited in an autosomal recessive pattern; this form of the disorder can result from mutations in the ENAM or MMP20 gene. Autosomal recessive inheritance means two copies of the gene in each cell are altered.
About 5 percent of amelogenesis imperfecta cases are caused by mutations in the AMELX gene and are inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In most cases, males with X-linked amelogenesis imperfecta experience more severe dental abnormalities than females with this form of this condition.Other cases of amelogenesis imperfecta result from new mutations in these genes and occur in people with no history of the disorder in their family.
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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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Does amelogenesis imperfecta have to do with the lack of quantity or quality of tooth enamel? See answer
Although we have not been diagnosed, my children and I have symptoms of amelogenesis imperfecta. Please tell me more about this condition, how it can be diagnosed, and if there is any cure or treatment available. In addition, is there any financial assistance to help pay for repair? See answer
My family and I have a genetic tooth disorder, and I am convinced it is amelogenesis imperfecta (AI). Is it possible to prevent my children from inheriting this condition? Are there any treatments for those already affected? See answer
What is the treatment protocol for amelogenesis imperfecta? Is fluoride supplementation useful for "hardening" the enamel of the teeth of individuals affected by this condition? See answer
My son has amelogenesis imperfecta. Our insurance company has requested proof that this is a medical condition. Can you provide me with information on this topic? See answer