Evidence map›Paper›PMID 40197225›Full record

ArticleBMC oral health2025

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.

Qianhua Gao, Ning Yue, Kehong Liu, Zhongren Deng, Ling Yang, Jing Zou, Qin Du

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC oral health, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Qianhua Gao *Department of Stomatology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, No.32, Section 2, The First Ring Road West, Chengdu, 610072, Sichuan, China.
Ning Yue *Department of Stomatology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, No.32, Section 2, The First Ring Road West, Chengdu, 610072, Sichuan, China.
Kehong LiuDepartment of Stomatology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, No.32, Section 2, The First Ring Road West, Chengdu, 610072, Sichuan, China.
Zhongren DengDepartment of Stomatology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, No.32, Section 2, The First Ring Road West, Chengdu, 610072, Sichuan, China.
Ling YangDepartment of Stomatology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, No.32, Section 2, The First Ring Road West, Chengdu, 610072, Sichuan, China.
Jing ZouState Key Laboratory of Oral Diseases, Department of Pediatric Dentistry, West China Hospital of Stomatology, National Clinical Research Center for Oral Diseases, Sichuan University, No. 14 Section 3, Renmin South Road, Chengdu, 610041, China. zoujing@scu.edu.cn.
Qin DuDepartment of Stomatology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, No.32, Section 2, The First Ring Road West, Chengdu, 610072, Sichuan, China. duqin@med.uestc.edu.cn.

Funding

Sichuan Provincial Natural Science Foundation 2023NSFSC1998
6 · The paper itself

Abstract

objectiveThis 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

methodsAfter 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 osteogenic differentiation, quantitative real-time PCR (qRT-PCR), Western blotting, CCK-8 proliferation assays, colony formation, and cell migration experiments.

resultsA novel frameshift mutation, DSPP c.2695delA.N899fs, was identified in the family. Micro-CT showed significant wear in the patient's teeth. SEM results revealed reduced and irregular dentinal tubules. Microhardness analysis showed significantly lower hardness in the patient's teeth. CCK-8, colony formation, and migration assays demonstrated reduced proliferation and migration capacities in the patient's SHEDs. qRT-PCR and Western blot results showed lower expression of DSPP, RUNX2, OCN, and ALP compared to controls, but higher DSPP protein level in the patient's SHEDs. Osteogenic differentiation tests indicated reduced mineralization capacity of the patient's SHEDs.

conclusionThis study identified a novel frameshift mutation, DSPP c.2695delA.N899fs, in a DGI-II family and demonstrated its impact on SHED proliferation, migration, and mineralization. The findings demonstrated that this novel variant disturbs dentinal characteristics and cell behavior of SHED.

Indexed as

Dentinogenesis ImperfectaExtracellular Matrix ProteinsPhosphoproteinsSialoglycoproteinsStem CellsTooth, DeciduousCell DifferentiationCell MovementCell ProliferationChildDentin SialophosphoproteinFemaleFrameshift MutationHumansMaleMicroscopy, Electron, ScanningDentin SialophosphoproteinExtracellular Matrix ProteinsPhosphoproteinsSialoglycoproteinsDentinogenesis imperfecta (DGI)DSPP geneFrameshift mutationShields type-IIStem cells from human exfoliated deciduous teeth (SHED)

Identifiers

PMID40197225
PMCPMC11978159

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.