Dentin dysplasia type I-A dental disease with genetic heterogeneity

Oral Dis. 2019 Mar;25(2):439-446. doi: 10.1111/odi.12861. Epub 2018 Apr 10.


Hereditary dentin disorders include dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), which are autosomal dominant diseases characterized by altered dentin structure such as abnormality in dentin mineralization and the absence of root dentin. Shields classified DGI into three subgroups and DD into two subtypes. Although they are all hereditary dentin diseases, they do not share the same causative genes. To date, the pathogenic genes of DGI type I, which is considered a clinical manifestation of syndrome osteogenesis imperfecta, include COL1A1 and COL1A2. Mutations of the DSPP gene, which encodes the dentin sialophosphoprotein, a major non-collagenous protein, are responsible for three isolated dentinal diseases: DGI-II, DGI-III, and DD-II. However, DD-I appears to be special in that researchers have found three pathogenicity genes-VPS4B, SSUH2, and SMOC2-in three affected families from different countries. It is believed that DD-I is a genetically heterogeneous disease and is distinguished from other types of dentin disorders. This review summarizes the DD-I literature in the context of clinical appearances, radiographic characteristics, and functions of its pathogenic genes and aims to serve clinicians in further understanding and diagnosing this disease.

Keywords: SMOC2; VPS4B; SSUH2; dentin dysplasia; pathogenic genes.

Publication types

  • Review

MeSH terms

  • ATPases Associated with Diverse Cellular Activities / genetics*
  • Caenorhabditis elegans Proteins / genetics*
  • Calcium-Binding Proteins / genetics*
  • Dentin Dysplasia / diagnosis*
  • Dentin Dysplasia / genetics*
  • Dentin Dysplasia / pathology
  • Dentinogenesis Imperfecta / diagnosis*
  • Diagnosis, Differential
  • Endosomal Sorting Complexes Required for Transport / genetics*
  • Genetic Heterogeneity
  • Humans
  • Phosphoprotein Phosphatases / genetics*


  • Caenorhabditis elegans Proteins
  • Calcium-Binding Proteins
  • Endosomal Sorting Complexes Required for Transport
  • SMOC2 protein, human
  • Phosphoprotein Phosphatases
  • SSUP-72 phosphatase, C elegans
  • ATPases Associated with Diverse Cellular Activities
  • VPS4B protein, human

Supplementary concepts

  • Dentin dysplasia, type 1