Evidence map›Paper›PMID 37017752›Full record

ArticleClinical oral investigations2023

Identification of DSPP novel variants and phenotype analysis in dentinogenesis dysplasia Shields type II patients.

Qin Du, Li Cao, Nana Yan, Sujun Kang, Mu Lin, Peilin Cao, Ran Jia, Chenyang Wang, Hanyu Qi, Yue Yu and 2 more

Abstract read
PubMed Publisher
In one paragraph

Article in Clinical oral investigations, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
1.0field-weighted citation impact, top 24% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.

  1. The genetics of non-syndromic dentinogenesis imperfecta: a systematic review.European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry · 2025
    Pooled it
  2. [Case report of dentinogenesis imperfecta and review of literature].Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2025
    Review
  3. Article
  4. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 4 institutions in 1 country.

Qin DuDepartment of Stomatology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, 610072, Sichuan, China.
Li CaoThe Sichuan Provincial Key Laboratory for Human Disease Gene Study, Centre for Medical Genetics, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, University of Electronic Science and Technology, No.32, Section 2, The First Ring Road West, Chengdu, 610072, China.
Nana YanDepartment of Stomatology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, 610072, Sichuan, China.
Sujun KangDepartment of Stomatology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, 610072, Sichuan, China.
Mu LinDepartment of Stomatology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, 610072, Sichuan, China.
Peilin CaoDepartment of Stomatology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, 610072, Sichuan, China.
Ran JiaSchool of Medicine, University of Electronic Science and Technology of China, Chengdu, 610054, Sichuan, China.
Chenyang WangSchool of Medicine, University of Electronic Science and Technology of China, Chengdu, 610054, Sichuan, China.
Hanyu QiSchool of Medicine, University of Electronic Science and Technology of China, Chengdu, 610054, Sichuan, China.
Yue YuState 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.
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.
Jiyun YangSchool of Medicine, University of Electronic Science and Technology of China, Chengdu, 610054, Sichuan, China. yangjiyun@yeah.net.
University of Electronic Science and Technology of China · CNChinese Academy of Medical Sciences & Peking Union Medical College · CNSichuan University · CNState Key Laboratory of Oral Diseases

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesTo investigate the genetic causes and teeth characteristics of dentin dysplasia Shields type II(DD-II) in three Chinese families. MATERIALS AND

methodsData from three Chinese families affected with DD-II were collected. Whole-exome sequencing (WES) and whole-genome sequencing (WGS) were conducted to screen for variations, and Sanger sequencing was used to verify mutation sites. The physical and chemical characteristics of the affected teeth including tooth structure, hardness, mineral content, and ultrastructure were investigated.

resultsA novel frameshift deletion mutation c.1871_1874del(p.Ser624fs) in DSPP was found in families A and B, while no pathogenic mutation was found in family C. The affected teeth's pulp cavities were obliterated, and the root canals were smaller than normal teeth and irregularly distributed comprising a network. The patients' teeth also had reduced dentin hardness and highly irregular dentinal tubules. The Mg content of the teeth was significantly lower than that of the controls, but the Na content was obviously higher than that of the controls.

conclusionsA novel frameshift deletion mutation, c.1871_1874del (p.Ser624fs), in the DPP region of the DSPP gene causes DD-II. The DD-II teeth demonstrated compromised mechanical properties and changed ultrastructure, suggesting an impaired function of DPP. Our findings expand the mutational spectrum of the DSPP gene and strengthen the understanding of clinical phenotypes related to the frameshift deletion in the DPP region of the DSPP gene. CLINICAL RELEVANCE: A DSPP mutation can alter the characteristics of the affected teeth, including tooth structure, hardness, mineral content, and ultrastructure.

Indexed as

Dentinogenesis ImperfectaToothDentinDentinogenesisDentin SialophosphoproteinExtracellular Matrix ProteinsHumansMutationPhenotypeDentin SialophosphoproteinExtracellular Matrix ProteinsDentin dysplasia-IIDentin phosphoprotein (DPP)Dentin sialophosphoprotein (DSPP)Hereditary dentin defects

Identifiers

PMID37017752
OpenAlexW4362602174

What Socratic holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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 Socratic graph.