Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification

Eur J Hum Genet. 2015 Apr;23(4):445-51. doi: 10.1038/ejhg.2014.159. Epub 2014 Aug 13.

Abstract

Dentinogenesis imperfecta is an autosomal dominant disease characterized by severe hypomineralization of dentin and altered dentin structure. Dentin extra cellular matrix is composed of 90% of collagen type I and 10% of non-collagenous proteins among which dentin sialoprotein (DSP), dentin glycoprotein (DGP) and dentin phosphoprotein (DPP) are crucial in dentinogenesis. These proteins are encoded by a single gene: dentin sialophosphoprotein (DSPP) and undergo several post-translational modifications such as glycosylation and phosphorylation to contribute and to control mineralization. Human mutations of this DSPP gene are responsible for three isolated dentinal diseases classified by Shield in 1973: type II and III dentinogenesis imperfecta and type II dentin dysplasia. Shield classification was based on clinical phenotypes observed in patient. Genetics results show now that these three diseases are a severity variation of the same pathology. So this review aims to revise and to propose a new classification of the isolated forms of DI to simplify diagnosis for practitioners.

Publication types

  • Review

MeSH terms

  • Collagen Type I / genetics
  • Collagen Type I / metabolism
  • Dentin / pathology
  • Dentin Dysplasia / classification*
  • Dentin Dysplasia / genetics*
  • Dentinogenesis Imperfecta / classification*
  • Dentinogenesis Imperfecta / genetics*
  • Extracellular Matrix Proteins / genetics*
  • Genetic Variation
  • Humans
  • Mutation
  • Phenotype
  • Phosphoproteins / genetics*
  • Sialoglycoproteins / genetics*

Substances

  • Collagen Type I
  • Extracellular Matrix Proteins
  • Phosphoproteins
  • Sialoglycoproteins
  • dentin sialophosphoprotein