A Novel Variant in Dentin Sialophosphoprotein (DSPP) Gene Causes Dentinogenesis Imperfecta Type III: Case Report.

ABSTRACT:

Background

Hereditary dentin defects are a group of autosomal dominant disorders characterized by developmental abnormalities in dentin formation and mineralization. They can be categorized into dentin dysplasia and dentinogenesis imperfecta.

Methods

In this study, we report a Chinese family with dentinogenesis imperfecta type III (DGI-III). The proband, a 3-year-old girl, and her mother showed extremely rapid attrition and opalescent discoloration in their teeth. Besides, the primary teeth of the proband showed "shell teeth" radiographically, a phenotype characterized by abnormally enlarged pulp cavities and thin dentin, which are specific features of DGI-III. The clinical data was collected and the genomic DNA was extracted from their peripheral blood samples. Whole-exome

SUBMITTER: Wang Y 

PROVIDER: S-EPMC11880773 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature