Dentinogenesis imperfecta
Última atualização 21 Mar 2023
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Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown colour) 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.
Descrição
Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown colour) 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.
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
DGI
Hereditary opalescent dentin
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Leitura adicional e referências
- Dentinogenesis imperfecta; MedlinePlus, National Library of Medicine.
- Beattie ML, Kim JW, Gong SG, Murdoch-Kinch CA, Simmer JP, Hu JC. Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. J Dent Res. 2006 Apr;85(4):329-33. doi: 10.1177/154405910608500409.
- Dong J, Gu T, Jeffords L, MacDougall M. Dentin phosphoprotein compound mutation 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.
- 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.
- 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 imperfecta type II. Hum Genet. 2005 Feb;116(3):186-91. doi: 10.1007/s00439-004-1223-6. Epub 2004 Dec 8.
- Kim JW, Nam SH, Jang KT, Lee SH, Kim CC, Hahn SH, Hu JC, Simmer JP. A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II. Hum Genet. 2004 Aug;115(3):248-54. doi: 10.1007/s00439-004-1143-5. Epub 2004 Jul 6.
- Lee SK, Lee KE, Song SJ, Hyun HK, Lee SH, Kim JW. A DSPP mutation causing dentinogenesis imperfecta and characterization of the mutational effect. Biomed Res Int. 2013;2013:948181. doi: 10.1155/2013/948181. Epub 2012 Dec 27.
- MacDougall M, Dong J, Acevedo AC. Molecular basis of human dentin diseases. Am J Med Genet A. 2006 Dec 1;140(23):2536-46. doi: 10.1002/ajmg.a.31359.
- Malmgren B, Lindskog S, Elgadi A, Norgren S. Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II. Hum Genet. 2004 Apr;114(5):491-8. doi: 10.1007/s00439-004-1084-z. Epub 2004 Feb 3.
- McKnight DA, Simmer JP, Hart PS, Hart TC, Fisher LW. Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. J Dent Res. 2008 Dec;87(12):1108-11. doi: 10.1177/154405910808701217.
- McKnight DA, Suzanne Hart P, Hart TC, Hartsfield JK, Wilson A, Wright JT, Fisher LW. A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene. Hum Mutat. 2008 Dec;29(12):1392-404. doi: 10.1002/humu.20783.
- Song Y, Wang C, Peng B, Ye X, Zhao G, Fan M, Fu Q, Bian Z. Phenotypes and genotypes in 2 DGI families with different DSPP mutations. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006 Sep;102(3):360-74. doi: 10.1016/j.tripleo.2005.06.020. Epub 2006 Jun 16.
- 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 imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat Genet. 2001 Feb;27(2):201-4. doi: 10.1038/84848.
- Zhang X, Zhao J, Li C, Gao S, Qiu C, Liu P, Wu G, Qiang B, Lo WH, Shen Y. DSPP mutation in dentinogenesis imperfecta Shields type II. Nat Genet. 2001 Feb;27(2):151-2. doi: 10.1038/84765.
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