Hereditary dentine disorders

Definition:

Hereditary dentine disorders are divided into 5 types: 3 types of dentinogenesis imperfecta (DGI), and 2 types of dentin dysplasia (DD). DGI type I is inherited with osteogenesis imperfecta [DS:H00506]. It has been shown that mutations in the genes encoding collagen type 1, COL1A1 and COL1A2, underlie this condition. All other forms of DGI and DD except DD1, appear to result from mutations in the gene encoding dentine sialophosphoprotein (DSPP).

References:

[1]. J-W Kim, et al. Hereditary dentin defects. J Dent Res. 2007 May;86(5):392-9. [Content Brief]

[2]. Martin J Barron, et al. Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia. Orphanet J Rare Dis. 2008 Nov 20;3:31. [Content Brief]

[3]. Mary MacDougall, et al. Molecular basis of human dentin diseases. Am J Med Genet A. 2006 Dec 1;140(23):2536-46. [Content Brief]

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