Hereditary dentin defects consist of dentin dysplasia(DD) and dentinogenesis imperfecta(DI). The DI associated with osteogenesis imperfecta has been classified as DI type I, whereas isolated inherited defects have been categorized as DI types II and III. However, whether DI type III should be considered a distinct phenotype or a variation of DI type II is debatable. Recent genetic findings have focused attention on the role of the dentin sialophosphoprotein(DSPP) gene in the etiology of inherited defects of tooth dentin. We have identified a novel mutation(c.727G → A, p.D243N) at the 243th codon of exon 4 of the DSPP gene in a Korean patient with DI type III. The radiographic and histologic features of the patient revealed the classic phenotype of shell teeth. These findings suggest that DI type II and III are not separate diseases but rather the phenotypic variation of a single disease.

Hereditary dentin defects consists of dentin dysplasia(DD) and denti nogenesis imperfecta(Dr) ‘ The Dl associated with osteogenesis imperfecta has been classified as DI type 1. whereas isolated inherited defects have been categori zed as DI types II and III , However‘ whether DI type III should be considered a distinct phenotype 01' a variation of DI type 1I is debatable , Recent genetic findings have focused attention on the role of the dentin sialo phosphoprotein(DSPP) gene in the etiology of inherited defects of tooth dentin, We have identified novel mlltation( c,727G - > A, p,D243N) at the 243th codon of exon 4 of the DSPP gene in a Korean patient with DI type III The radiographic and histologic features of the patient revealed the classic phenotype of shell teeth These findings sllggest that DI type II and III are not separate diseases bllt rather the phenotypic variation 01' a s ingle disease