Unfortunately, Amelogenesis imperfecta can negatively impact both primary teeth and permanent teeth. Around 14 forms of this condition have been determined by researchers. It has also been found to affect approximately 1 in 700 people in northern Sweden to 1 in 14,000 people in the United States.
Many cases of Amelogenesis imperfecta are a result of mutations in the AMELX, ENAM, MMP20, and FAM83H genes, which are normally responsible for making proteins essential for normal tooth and enamel development (ameloblastin, enamelin, tuftelin and amelogenin). Tooth enamel is a hard outer layer rich in calcium that functions to protect the tooth. As a result of a mutation, tooth enamel becomes thin and weaker than normal, and may even appear yellow or brown in color. The genetic causes of other cases have not yet been identified.
This condition can be inherited in both an autosomal dominant pattern and autosomal recessive pattern. In an autosomal dominant pattern, once copy of the mutated gene in each cell can cause Amelogenesis imperfecta. An autosomal recessive pattern involves two mutated copies of the gene in each cell. Researchers found that around 5 percent of amelogenesis imperfecta cases are due to mutations in the AMELX gene and are inherited in an X-linked pattern. They also found that males with X-linked amelogenesis imperfecta have more severe dental problems than females with this form of the condition.
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