Amelogenesis Imperfecta - Genetics


Up to date, mutations in the AMELX, ENAM, MMP20, and KLK-4 genes have been found to cause amelogenesis imperfecta (non-syndromic form). The AMELX, ENAM, KLK-4 and MMP20 genes provide instructions for making proteins that are essential for normal tooth development. These proteins are involved in the formation of enamel, which is a 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.

Researchers are looking for mutations in other genes that may also cause amelogenesis imperfecta.

Types include:

Type OMIM Gene Locus
AI1B 104500 ENAM 4q21
AI1C 204650 ENAM 4q21
AI2A1 204700 KLK4 19q13.4
AI2A2 612529 MMP20 11q22.3-q23
AI2A3 613211 WDR72 15q21.3
AI3 130900 FAM83H 8q24.3
AIH1 301200 AMELX Xp22.3-p22.1

Amelogenesis imperfecta can have different inheritance patterns 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 is also 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% 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 an X-linked form of this condition experience more severe dental abnormalities than affected females.

Other cases of this condition result from new gene mutations and occur in people with no history of the disorder in their family.

Read more about this topic:  Amelogenesis Imperfecta

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