제III형 상아질 형성부전증에서 Dentin Sialophosphoprotein 유전자 돌연변이

Abstract

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.