A family study of dentinogenesis imperfecta shields type II caused by a novel DSPP mutation and investigations on the isolated stem cells from human exfoliated deciduous teeth.

ABSTRACT:

Objective

This study aims to analyze the clinical features and genetic mutation characteristics of a family with Dentinogenesis Imperfecta Shields type II (DGI-II) and to observe the behavior of the stem cells from human exfoliated deciduous teeth (SHED) to explore the relationship between the locus of dentin sialophosphoprotein (DSPP) mutations and family clinical manifestations.

Materials and methods

After collecting clinical data from the family, Whole Genome Sequencing (WGS) followed by Sanger sequencing was used to identify pathogenic genes sites. The physical characteristics of the patient's teeth were examined using Micro-CT, scanning electron microscopy (SEM), and microhardness analysis. The behavior of SHEDs was studied through flow cytometry, adipogenic and osteoge

SUBMITTER: Gao Q 

PROVIDER: S-EPMC11978159 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature