Dentinogenesis imperfecta type 2

Alternate names

DGI-2; Dentinogenesis imperfecta, Shields type 2; DI-2; Capdepont teeth

Definition

Dentinogenesis imperfecta type 2 is a rare and severe form of dentinogenesis imperfecta, a condition that affects tooth development.

Epidemiology

Dentinogenesis imperfecta affects an estimated 1 in 6,000 to 8,000 people.

Cause

• Mutations in the DSPP gene have been identified in people with dentinogenesis imperfecta type II.
• Mutations in this gene are also responsible for dentin dysplasia type II.
• The DSPP gene provides instructions for making two proteins that are essential for normal tooth development.
• These proteins are involved in the formation of dentin, which is a bone-like substance that makes up the protective middle layer of each tooth.

Gene mutations

• DSPP gene mutations alter the proteins made from the gene, leading to the production of abnormally soft dentin.
• Teeth with defective dentin are discolored, weak, and more likely to decay and break.
• It is unclear whether DSPP gene mutations are related to the hearing loss found in a few older individuals with dentinogenesis imperfecta type II.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Signs and symptoms

People affected by the condition may have weak and discolored teeth. These problems can affect both primary (baby) teeth and permanent teeth. People with this form of dentinogenesis imperfecta have no normal teeth. Sensorineural hearing loss has also been found in some affected people.

Diagnosis

Type I and II have similar radiographic featuresː

• Total obliteration of the pulp chamber and root canals due to deposition of dentine
• Bulbous crowns with apparent cervical constriction
• Reduced root-length with rounded apices

Treatment

Treatment is usually focused on protecting primary (baby) and then permanent teeth with preformed pediatric crowns and other interventions. The replacement of teeth might be considered in the future with dentures and/or implants.

NIH genetic and rare disease info

• NIH info on Dentinogenesis imperfecta type 2

Dentinogenesis imperfecta type 2 is a rare disease.