Amelogenesis imperfecta is due to defect in?
Amelogenesis imperfecta can have different inheritance patterns depending on the gene that is altered.
- Mutations in the ENAM gene are the most frequent known cause and are most commonly inherited in an autosomal dominant pattern. This means one copy of the altered gene in each cell is sufficient to cause the disorders.
- The disorder can also occur in autosomal recessive pattern from the mutations in the ENAM, MMP 20, KLK 4, FAM 20A or SLC24A4 genes. This means two copies of the gene in each cell is altered.
- About 5% cases are caused by mutations in the AMELX gene and are inherited in an X-linked pattern. In most cases, males with an X-linked form of this condition experience more severe dental abnormalities that affected females.
ENAM
MSX-1
DSPP
PAX-9