People afflicted with amelogenesis imperfecta have teeth with abnormal color: yellow, brown or grey. The teeth have a higher risk for dental cavities and are hypersensitive to temperature changes. This disorder can afflict any number of teeth.
Researchers are looking for mutations in other genes that may also cause amelogenesis imperfecta.
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.
Researchers from University of Bern, Department of Prosthodontics describe findings in amelogenesis imperfecta.(Clinical report)
Nov 28, 2010; Fresh data on amelogenesis imperfecta are presented in the report 'A multidisciplinary approach to the functional and esthetic...
New Amelogenesis Imperfecta Study Findings Recently Were Published by Researchers at University of Chile.(Report)
Feb 03, 2012; According to the authors of recent research from Santiago, Chile, "The purpose of this study was to conduct a multidisciplinary...