Dentinogenesis imperfecta: MedlinePlus Genetics (2024)

Description

Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth.

Researchers have described three types of dentinogenesis imperfecta with similar dental abnormalities. Type I occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle and easily broken. Dentinogenesis imperfecta type II and type III usually occur in people without other inherited disorders. A few older individuals with type II have had progressive high-frequency hearing loss in addition to dental abnormalities, but it is not known whether this hearing loss is related to dentinogenesis imperfecta.

Some researchers believe that dentinogenesis imperfecta type II and type III, along with a condition called dentin dysplasia type II, are actually forms of a single disorder. The signs and symptoms of dentin dysplasia type II are very similar to those of dentinogenesis imperfecta. However, dentin dysplasia type II affects the primary teeth much more than the permanent teeth.

Frequency

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

Causes

Mutations in the DSPP gene have been identified in people with dentinogenesis imperfecta type II and type III. Mutations in this gene are also responsible for dentin dysplasia type II. Dentinogenesis imperfecta type I occurs as part of osteogenesis imperfecta, which is caused by mutations in one of several other genes (most often the COL1A1 or COL1A2 genes).

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. 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.

Learn more about the gene associated with Dentinogenesis imperfecta

DSPP

Inheritance

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.

Other Names for This Condition

DGI
Hereditary opalescent dentin

Additional Information & Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

National Organization for Rare Disorders (NORD)

Clinical Trials

ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

PubMed

References

Beattie ML, Kim JW, Gong SG, Murdoch-Kinch CA, Simmer JP, Hu JC. Phenotypicvariation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. J DentRes. 2006 Apr;85(4):329-33. doi: 10.1177/154405910608500409. Citation on PubMed or Free article on PubMed Central
Dong J, Gu T, Jeffords L, MacDougall M. Dentin phosphoprotein compoundmutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III.Am J Med Genet A. 2005 Jan 30;132A(3):305-9. doi: 10.1002/ajmg.a.30460. Citation on PubMed
Kantaputra PN. Dentinogenesis imperfecta-associated syndromes. Am J Med Genet.2001 Nov 15;104(1):75-8. doi: 10.1002/ajmg.10031. No abstract available. Citation on PubMed
Kim JW, Hu JC, Lee JI, Moon SK, Kim YJ, Jang KT, Lee SH, Kim CC, Hahn SH,Simmer JP. Mutational hot spot in the DSPP gene causing dentinogenesis imperfectatype II. Hum Genet. 2005 Feb;116(3):186-91. doi: 10.1007/s00439-004-1223-6. Epub2004 Dec 8. Citation on PubMed
Kim JW, Nam SH, Jang KT, Lee SH, Kim CC, Hahn SH, Hu JC, Simmer JP. A novelsplice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta typeII. Hum Genet. 2004 Aug;115(3):248-54. doi: 10.1007/s00439-004-1143-5. Epub 2004Jul 6. Citation on PubMed
Lee SK, Lee KE, Song SJ, Hyun HK, Lee SH, Kim JW. A DSPP mutation causingdentinogenesis imperfecta and characterization of the mutational effect. BiomedRes Int. 2013;2013:948181. doi: 10.1155/2013/948181. Epub 2012 Dec 27. Citation on PubMed or Free article on PubMed Central
MacDougall M, Dong J, Acevedo AC. Molecular basis of human dentin diseases. AmJ Med Genet A. 2006 Dec 1;140(23):2536-46. doi: 10.1002/ajmg.a.31359. Citation on PubMed
Malmgren B, Lindskog S, Elgadi A, Norgren S. Clinical, histopathologic, andgenetic investigation in two large families with dentinogenesis imperfecta typeII. Hum Genet. 2004 Apr;114(5):491-8. doi: 10.1007/s00439-004-1084-z. Epub 2004Feb 3. Citation on PubMed
McKnight DA, Simmer JP, Hart PS, Hart TC, Fisher LW. Overlapping DSPPmutations cause dentin dysplasia and dentinogenesis imperfecta. J Dent Res. 2008Dec;87(12):1108-11. doi: 10.1177/154405910808701217. Erratum In: J Dent Res. 2009Jan;88(1):95. Citation on PubMed or Free article on PubMed Central
McKnight DA, Suzanne Hart P, Hart TC, Hartsfield JK, Wilson A, Wright JT,Fisher LW. A comprehensive analysis of normal variation and disease-causingmutations in the human DSPP gene. Hum Mutat. 2008 Dec;29(12):1392-404. doi:10.1002/humu.20783. Citation on PubMed
Song Y, Wang C, Peng B, Ye X, Zhao G, Fan M, Fu Q, Bian Z. Phenotypes andgenotypes in 2 DGI families with different DSPP mutations. Oral Surg Oral MedOral Pathol Oral Radiol Endod. 2006 Sep;102(3):360-74. doi:10.1016/j.tripleo.2005.06.020. Epub 2006 Jun 16. Citation on PubMed
Xiao S, Yu C, Chou X, Yuan W, Wang Y, Bu L, Fu G, Qian M, Yang J, Shi Y, Hu L,Han B, Wang Z, Huang W, Liu J, Chen Z, Zhao G, Kong X. Dentinogenesis imperfecta1 with or without progressive hearing loss is associated with distinct mutationsin DSPP. Nat Genet. 2001 Feb;27(2):201-4. doi: 10.1038/84848. Erratum In: NatGenet 2001 Mar;27(3):345. Citation on PubMed
Zhang X, Zhao J, Li C, Gao S, Qiu C, Liu P, Wu G, Qiang B, Lo WH, Shen Y. DSPPmutation in dentinogenesis imperfecta Shields type II. Nat Genet. 2001Feb;27(2):151-2. doi: 10.1038/84765. Citation on PubMed

Dentinogenesis imperfecta: MedlinePlus Genetics (2024)

FAQs

How is dentinogenesis imperfecta genetically inherited? ›

Dentinogenesis imperfecta is caused by genetic changes in the DSPP gene and is inherited in an autosomal dominant manner.

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What is dentinogenesis imperfecta Medlineplus? ›

Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent.

Get More Info Here ›

Is dentinogenesis imperfecta a rare autosomal? ›

It is one of the most frequently occurring autosomal dominant features in humans. Dentinogenesis imperfecta affects an estimated 1 in 6,000-8,000 people. This condition can cause teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent, giving teeth an opalescent sheen.

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What type of mutation is dentinogenesis imperfecta? ›

Dentinogenesis imperfecta type I occurs as part of osteogenesis imperfecta, which is caused by mutations in one of several other genes (most often the COL1A1 or COL1A2 genes). The DSPP gene provides instructions for making two proteins that are essential for normal tooth development.

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What is the genetic inheritance pattern of osteogenesis imperfecta? ›

Inheritance. When caused by mutations in the COL1A1 or COL1A2 gene, osteogenesis imperfecta has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition.

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Are teeth inherited from father? ›

Unfortunately, the answer is yes – bad teeth can be genetic. Your genes can affect how your teeth and bone structure develop, meaning sometimes they may not form properly and be susceptible to dental issues. Read on to find out which problems can run in the family and what you can do to maintain a healthy smile.

What is the prevalence of dentinogenesis imperfecta? ›

Prevalence of DGI is reported to be 1/6,000 to 1/8,000. Signs of the condition are variable and there is significant overlap between different types of dentin dysplasia (DD, see this term) and dentinogenesis imperfecta.

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What is the difference between dentinogenesis imperfecta Type 1 and 2? ›

Dentinogenesis imperfecta has been divided into two broad types. Type I, where the dentin abnormality occurs in patients with concurrent osteogenesis imperfecta (OI), primary teeth are more severely affected than permanent teeth. In type II patients have only dentin abnormalities and no bone disease.

Can dentinogenesis imperfecta be passed down? ›

Dentinogenesis imperfecta type III is inherited as an autosomal dominant trait. The abnormal (mutated) gene has been tracked to a site on the long arm of chromosome 4 at band 21.3 (4q21. 3). Interestingly, this gene is thought to code for two major dentin proteins — dentin sialoprotein and dentin phosphoprotein.

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What is type 2 dentinogenesis imperfecta? ›

Dentinogenesis imperfecta (DGI) type II affects both primary and permanent dentitions and has the autosomal mode of inheritance. The affected teeth may appear as amber or gray because of chipping of enamel shortly after their eruption.

What is the differential diagnosis for dentinogenesis imperfecta? ›

The differential diagnosis for Dentinogenesis imperfecta includes Dentin Dysplasia. Bulbous crowns, marked cervical constrictions, severe attritions, few periapical radioluscencies, and a premature teeth loss are the typical features of dentinogenesis imperfecta.

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What is the genetic inheritance pattern of Amelogenesis imperfecta? ›

Amelogenesis imperfecta can also be inherited in an autosomal recessive pattern; this form of the disorder can result from mutations in the ENAM or MMP20 gene. Autosomal recessive inheritance means two copies of the gene in each cell are altered.

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How does genetics cause periodontal disease? ›

For example, some people with severe periodontal disease have genetic factors that affect the immune factor interleukin-1 (IL-1), a cytokine involved in the inflammatory response. Such individuals are up to 20 times more likely to develop advanced periodontitis than those without these genetic factors.

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What dental condition is hereditary? ›

Amelogenesis Imperfecta is a genetic disorder affecting tooth enamel development, leading to weak, discolored, and decay-prone teeth. On the other hand, Dentinogenesis Imperfecta is a genetic disorder affecting tooth dentin development, causing discolored, brittle, and weak teeth.

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What is the genetic condition that makes your teeth rot? ›

Amelogenesis Imperfecta – This genetic disorder causes enamel defects and affects the appearance of teeth. People with this disorder might have smaller and discolored teeth, chalky color changes, or grooved or pitted enamel surfaces.

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