Occlusal reconstruction for a patient with dentinogenesis imperfecta typeⅡ / 实用口腔医学杂志

Dentinogenesis imperfecta type II(DGI-Ⅱ)is a rare autosomal dominant hereditary disease.DGI-Ⅱ tooth is short and brittle. This article reports the occlusal reconstruction treatment with fixed partial denture and discusses the key points of treatment.

Clinical analysis of dentinogenesis imperfecta type Ⅱ in a large Mongolian family / 基础医学与临床

Objective To figure the clinical characteristics and genetic bases of Dentinogenesis imperfecta type Ⅱ in a large Mongolian family.Methods Systematic analysis for this family was carried out using clinical detection. Results Affected individuals of Dentinogenesis imperfecta type Ⅱ were consecutively found in a five-generation family. The morbidity of the offsprings is nearly 1/2 and no sexual difference is found. The analysis of clinical features as well as dental x-ray check showed specific finding that were not found in other families. Conclusion Dentinogenesis imperfecta type Ⅱ in this Mongolian family pertains to autosomal dominant disorder with high genetic heterogeneity in clinical phenotype. Further study is warranted to identify the association of this heterogeneity with lifestyle or genetic information.

A novel splicing mutation in intron 2 of DSPP gene in a family with dentinogenesis imperfecta type Ⅱ / 临床检验杂志

Objective To report a familial dentinogenesis imperfecta type Ⅱ (DGI type Ⅱ) with a novel splicing mutation in DSPP (dentin sialophosphoprotein) gene.Methods Based on the result of linkage analysis performed previously to map the candidate gene DSPP in the family, the promoter,the first four exons and exon-intron boundaries of DSPP were directly sequenced for the members of the DGI type Ⅱ family. Denaturing high performance liquid chromatography (DHPLC) analysis was performed to confirm the results of sequencing.Results A novel splicing mutation of 23 bp deletion in intron 2 of DSPP gene was identified by DNA sequence analysis. The mutation changed acceptor site sequence from CAG to AAG, and might result in functional abolition of possible branch point site in intron 2. DHPLC result was consistent with that of sequencing. The mutation may be identified in all affected individuals, but not found in normal members of the family and 50 controls.Conclusion These results suggest the deleted mutation of DSPP gene causes DGI type Ⅱ in the family. The mutation has not been reported before.