SNP Shot: Genomic Insights

Dentinogenesis imperfecta is a genetic condition impacting tooth development. Individuals with this disorder typically exhibit teeth that are discolored (often blue-gray or yellow-brown) and have a translucent appearance. Affected teeth are also structurally weaker, leading to accelerated wear, breakage, and eventual loss. Both primary (baby) and permanent teeth can be affected by these issues.

Three types of dentinogenesis imperfecta have been identified, each presenting with similar dental anomalies. Type I is associated with osteogenesis imperfecta, a genetic disease characterized by fragile and easily fractured bones. Dentinogenesis imperfecta types II and III generally occur independently of other inherited conditions. Rarely, older adults with type II have also experienced progressive high-frequency hearing loss alongside the dental problems, although the link between hearing loss and dentinogenesis imperfecta remains unclear.

Some experts suggest that dentinogenesis imperfecta types II and III may be variations of the same underlying condition as dentin dysplasia type II, due to the similarities in their symptoms. However, dentin dysplasia type II primarily affects the primary teeth, with a lesser impact on the permanent teeth.

Inheritance:

This condition follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene in each cell is needed for the disorder to manifest.