A Novel DSPP Mutation in Dentinogenesis Imperfecta Shields Type II: Clinical, Genetic and Stem Cell Perspectives.

ABSTRACT:

Introduction and aims

To identify the genetic cause of dentinogenesis imperfecta type II (DGI-II) in a family, analyse tooth microstructure and evaluate functional defects in patient-derived stem cells (SHED) to explore genotype-phenotype links.

Methods

A 13-member family with DGI-II underwent clinical evaluation. Whole-exome sequencing (WES) and Sanger sequencing identified pathogenic variants. Exfoliated tooth was assessed via micro-CT, microhardness testing and SEM. SHEDs from patients and controls were isolated, validated for stemness (flow cytometry, adipogenic induction) and tested for proliferation (CCK-8), migration (scratch assay) and mineralisation (osteogenic induction). Expression of DSPP, RUNX2, OCN and ALP was analysed by qRT-PCR and Western blot. Green floresc

SUBMITTER: Gao Q 

PROVIDER: S-EPMC12345271 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature