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Glossary

  • Deletion Mutation: Occurs when part of a gene is missing. In cases of osteogenesis imperfecta, part of one of the genes for type 1 collagen has been deleted; it is missing. The resulting gene is shorter than it should be and this contributes to the genetic causes for OI.
  • Dentinogenesis Imperfecta (Brittle Teeth): Hereditary condition characterized by translucent gray to yellow-brown teeth involving both dedicuous (baby) and permanent teeth. The enamel fractures easily. Dentinogenesis Imperfecta can be seen in people with osteogenesis imperfecta or it can be caused by mutations in dentin sialophosphoprotein (DSPP).
  • DNA (Deoxyribonucleic Acid): Deoxyribonucleic acid is the 'building block' for all genetic material.
  • Dominant: Term used to describe a genetic disorder such as OI that is caused by a single abnormal gene. This gene can be inherited from the mother or the father or be the result of a spontaneous mutation.
  • Dual Energy X-Ray Absorptiometry (DEXA Scan): A common method for measuring bone mass. The results of this test are usually reported as BMD or bone mineral density.