Evidence map›Paper›PMID 39304502›Full record

ArticleHua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology2024

A novel PAX9 variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9variants.

Zhanyun Jin, Junjia Guo, Yunyun Yuan, Lingqiang Meng, Hui Li, Ya Zhao, Jiabao Ren, Yongping Ma, Zun-Sheng Xiao, Hong Zhang and 5 more

Abstract read
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In one paragraph

Article in Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Genetic architecture of craniofacial morphogenesis: roles ofFrontiers in cell and developmental biology · 2026
    Review
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

15 authors.

Zhanyun JinDept. of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University, Hebei Key Laboratory of Stomatology, Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China.
Junjia GuoDept. of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University, Hebei Key Laboratory of Stomatology, Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China.
Yunyun YuanDept. of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University, Hebei Key Laboratory of Stomatology, Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China.
Lingqiang MengDept. of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University, Hebei Key Laboratory of Stomatology, Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China.
Hui LiDept. of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University, Hebei Key Laboratory of Stomatology, Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China.
Ya ZhaoDept. of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University, Hebei Key Laboratory of Stomatology, Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China.
Jiabao RenDept. of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University, Hebei Key Laboratory of Stomatology, Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China.
Yongping MaDept. of Stomatology,the No.2 Hospital of Baoding, Baoding 071051, China.
Zun-Sheng XiaoDept. of Stomatology, Cangzhou Central Hospital, Cangzhou 061001, China.
Hong ZhangDept. of Stomatology,the No.2 Hospital of Baoding, Baoding 071051, China.
Ling YangHengshui Sixth People's Hospital, Hengshui 053200, China.
Chenyun DouDept. of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University, Hebei Key Laboratory of Stomatology, Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China.
Xiaoxue WangDept. of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University, Hebei Key Laboratory of Stomatology, Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China.
Jinmei WangDept. of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University, Hebei Key Laboratory of Stomatology, Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China.
Wenjing ShenDept. of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University, Hebei Key Laboratory of Stomatology, Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesThis study aimed to identifyPAX9variants in non-syndromic tooth agenesis families of China, as well as to analyze the genotype⁃phenotype of non-syndromic tooth agenesis caused by PAX9variants, which can provide a basis for the genetic diagnosis of tooth agenesis.

methodsWe collected the data of 44 patients with non-syndromic oligodontia who underwent treatment at Stomatological Hospital of Hebei Medical University between 2018 and 2023. Whole-exome sequencing was performed on the peripheral blood of the proband and its core family members, and the variants were verified by Sanger sequencing. Pathogenicity analysis and function prediction of the variants were performed using bioinformatics tools. The correlation between the genotype of PAX9 variant and its corresponding phenotype was examined by reviewing 55 publications retrieved from PubMed. The studies involved 232 tooth agenesis patients with PAX9 variants.

resultsA novel PAX9 c.447delG (p.Pro150Argfs*62) and a reported PAX9 c.406C>T (p.Gln136*) were identified in two Chinese families. Through bioinformatics analysis and three-dimensional structural modeling, we postulated that the frameshift variant was pathogenic. The outcome was the premature cessation of PAX9 protein, which caused severe structural and functional deficiencies. Summarizing the PAX9 genotype-phenotype relationship revealed that patients carrying the PAX9 variant commonly led to loss of the second molars.

conclusionsWe identified the novel PAX9 c.447delG (p.Pro150Argfs*62) in a Chinese family of non-syndromic oligodontia, expanding the known variant spectrum of PAX9. The most susceptible tooth position for PAX9 variants of tooth agenesis was the second molars and the deciduous molars during the deciduous dentition.

Indexed as

AnodontiaExome SequencingGenotypePAX9 Transcription FactorPhenotypeChinaEast Asian PeopleGenetic Association StudiesHumansPedigreePAX9 protein, humanPAX9 Transcription Factorgenotype-phenotypenon-syndromic tooth agenesisPAX9whole-exome sequencing

Identifiers

PMID39304502
PMCPMC11493862

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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.