Dentinogenesis imperfecta (DI) is a genetic disorder of tooth development. It is inherited in an autosomal dominant pattern, as a result of mutations on chromosome 4q21, in the dentine sialophosphoprotein gene (DSPP).[1][2][3][4][5] It is one of the most frequently occurring autosomal dominant features in humans.[6] Dentinogenesis imperfecta affects an estimated 1 in 6,000-8,000 people.[7]
This condition can cause teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent, giving teeth an opalescent sheen.[2][3][8][5][9] Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss.[2][3][4][5][8] These problems can affect baby (primary/deciduous) teeth alone, or both baby teeth and adult (permanent) teeth, with the baby teeth usually more severely affected.[5][8]
Although genetic factors are the main contributor for the disease, any environmental or systemic upset that impedes calcification or metabolisation of calcium can also result in anomalous dentine.
^ abSoliman S, Meyer-Marcotty P, Hahn B, Halbleib K, Krastl G (September 2018). "Treatment of an Adolescent Patient with Dentinogenesis Imperfecta Using Indirect Composite Restorations - A Case Report and Literature Review". The Journal of Adhesive Dentistry. 20 (4): 345–354. doi:10.3290/j.jad.a40991. PMID30206577.
^ abcdMalmgren B, Norgren S (March 2002). "Dental aberrations in children and adolescents with osteogenesis imperfecta". Acta Odontologica Scandinavica. 60 (2): 65–71. doi:10.1080/000163502753509446. PMID12020117. S2CID110970.
^Thotakura SR, Mah T, Srinivasan R, Takagi Y, Veis A, George A (March 2000). "The non-collagenous dentin matrix proteins are involved in dentinogenesis imperfecta type II (DGI-II)". Journal of Dental Research. 79 (3): 835–839. doi:10.1177/00220345000790030901. PMID10765957. S2CID38418321.