biostudies-literatureUnknown75(5)Gao Q<h4>Introduction and aims</h4>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.<h4>Methods</h4>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 florescInternational dental journal100937https://www.ebi.ac.uk/biostudies/studies/S-EPMC12345271biostudies-literatureA Novel DSPP Mutation in Dentinogenesis Imperfecta Shields Type II: Clinical, Genetic and Stem Cell Perspectives.PMC12345271Gao QYang JDu QLiu KYang LDeng ZfalseA Novel DSPP Mutation in Dentinogenesis Imperfecta Shields Type II: Clinical, Genetic and Stem Cell Perspectives.<h4>Introduction and aims</h4>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.<h4>Methods</h4>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 floresc2025-01-01T00:00:00Z2025 Aug2026-04-30T14:41:27.029Z2026-04-07T16:03:34.254ZS-EPMC123452714076368610.1016/j.identj.2025.100937