Amelogenesis imperfecta hypomaturation type (AI type IIA1) is a disease that affects tooth development. It is one of fourteen subtypes of amelogenesis imperfecta, which are grouped based on their specific tooth defects. Symptoms of AI type IIA1 include small or discolored teeth, pitting and grooving in the teeth, and teeth that break easily. Unlike other types of AI, type IIA1 is characterized an open bite and teeth that are creamy white to yellow-brown in color and teeth that are tender and sore. The enamel of teeth in this subtype is of normal thickness, but tends to be chipped or scraped away.
AI type IIA1 is a genetic condition caused by mutations (changes) in the KLK4 gene. Our genes are what control the growth, development and function of our bodies. If a mistake or error occurs in a gene, it can cause problems. We inherit our genes in pairs, one from each parent typically. AI type IIA1 is inherited in an autosomal recessive manner. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers of the condition, each child has a one in four chance (25%) of having the disease.
AI type IIA1 is usually diagnosed by looking at the teeth, family history, and X-rays to look at the teeth when they erupt. Usually, diagnosis can be made between the ages of one and two years old. Treatment for the condition usually involves full crown restorations and dentures that corrects the way the teeth meet. If you or a family member has been diagnosed with amelogenesis imperfecta type IIA1, talk to your doctor about the most current treatment options. Support groups are also a good source of information.
Description Last Updated: Mar 09, 2018