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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Dentinogenesis imperfecta 1


Other Names for this Disease
  • Capdepont teeth
  • Dentinogenesis imperfecta Shields type 2
  • Dentinogenesis imperfecta type 1
  • Dentinogenesis imperfecta without osteogenesis imperfecta
  • Opalescent dentin
More Names
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Cause


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What causes dentinogenesis imperfecta?

Mutations in the DSPP gene cause dentinogenesis imperfecta. The DSPP gene provides instructions for making three 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. DSPP 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 how DSPP mutations are related to hearing loss in some families with dentinogenesis imperfecta type II.[1]
Last updated: 4/29/2011

References
  1. Dentinogenesis imperfecta. Genetics Home Reference (GHR). November 2009; http://ghr.nlm.nih.gov/condition=dentinogenesisimperfecta. Accessed 4/29/2011.