Dentinogenesis imperfecta

Dentinogenesis imperfecta
Oral photographs from an individual with Dentinogenesis imperfecta
SpecialtyDentistry Edit this on Wikidata

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.

  1. ^ Beattie ML, Kim JW, Gong SG, Murdoch-Kinch CA, Simmer JP, Hu JC (April 2006). "Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21". Journal of Dental Research. 85 (4): 329–333. doi:10.1177/154405910608500409. PMC 2238637. PMID 16567553.
  2. ^ a b c Barron MJ, McDonnell ST, Mackie I, Dixon MJ (November 2008). "Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia". Orphanet Journal of Rare Diseases. 3 (1): 31. doi:10.1186/1750-1172-3-31. PMC 2600777. PMID 19021896.
  3. ^ a b c de La Dure-Molla M, Philippe Fournier B, Berdal A (April 2015). "Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification". European Journal of Human Genetics. 23 (4): 445–451. doi:10.1038/ejhg.2014.159. PMC 4666581. PMID 25118030.
  4. ^ a b Soliman 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. PMID 30206577.
  5. ^ a b c d Malmgren 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. PMID 12020117. S2CID 110970.
  6. ^ 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. PMID 10765957. S2CID 38418321.
  7. ^ Witkop CJ (January 1975). "Hereditary defects of dentin". Dental Clinics of North America. 19 (1): 25–45. doi:10.1016/S0011-8532(22)00655-3. PMID 162890. S2CID 22518085.
  8. ^ a b c Ma MS, Najirad M, Taqi D, Retrouvey JM, Tamimi F, Dagdeviren D, et al. (March 2019). "Caries prevalence and experience in individuals with osteogenesis imperfecta: A cross-sectional multicenter study". Special Care in Dentistry. 39 (2): 214–219. doi:10.1111/scd.12368. PMC 6402806. PMID 30758072.
  9. ^ Cite error: The named reference Bath-Balogh_2011 was invoked but never defined (see the help page).