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.

I. 서론
 II. 재료 및 방법
  1. 환자
  2. DSPP 유전자의 돌연변이 검색
 III. 결과
  1. 병리조직학적 소견
  2. DSPP의 돌연변이
 IV. 고찰
 V. 참고문헌

• 김수아(조선대학교 치과대학 병리학교실) | Soo A Kim
• 김대환(조선대학교 치과대학 병리학교실) | Dae Hwan Kim
• 안상건(조선대학교 치과대학 병리학교실) | Sang Gun Ahn
• 윤정훈(조선대학교 치과대학 병리학교실) | Jung Hoon Yoon correspondence