A novel PAX9 compound heterozygous variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants
Autor(a) principal: | |
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Data de Publicação: | 2023 |
Outros Autores: | , , , , , , , , , , |
Tipo de documento: | Conjunto de dados |
Título da fonte: | SciELO Data |
Texto Completo: | https://doi.org/10.48331/scielodata.OMMQEH |
Resumo: | It has been reported that >91.9% of non-syndromic tooth agenesis cases are caused by seven pathogenic genes. Objective: Here, we report novel heterozygous PAX9 variants in a Chinese family with non-syndromic oligodontia and summarize the reported genotype-phenotype relationship of PAX9 variants. Methodology: We recruited 28 patients with non-syndromic oligodontia who were admitted to the Hospital of Stomatology Hebei Medical University (China) between 2018 and 2021. Peripheral blood was collected from the probands and their core family members for whole-exome sequencing (WES) and variants were verified by Sanger sequencing. Bioinformatics tools were used to predict the pathogenicity of the variants. SWISS-MODEL homology modeling was used to analyze the three-dimensional structural changes of variant proteins. We also analyzed the genotype-phenotype relationships of PAX9 variants. Results: We identified novel compound heterozygous PAX9 variants (reference sequence NM_001372076.1) in a Chinese family with non-syndromic oligodontia: a new missense variant c.1010C>A (p.T337K) in exon 4 and a new frameshift variant c.330_331insGT (p.D113Afs*9) in exon 2, which was identified as the pathogenic variant in this family. This expanded the known variant spectrum of PAX9, and we then summarized the phenotypes of non-syndromic oligodontia with PAX9 variants. Conclusion: We found that PAX9 variants commonly lead to loss of the second molars. |
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https://doi.org/10.48331/scielodata.OMMQEHRen, JiabaoZhao, YaYuan, YunyunZhang, JingDing, YulinLi, MeikangAn, YilinChen, WenjingZhang, LiLiu, BoyuZheng, ShushenShen, WenjingA novel PAX9 compound heterozygous variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variantsSciELO DataIt has been reported that >91.9% of non-syndromic tooth agenesis cases are caused by seven pathogenic genes. Objective: Here, we report novel heterozygous PAX9 variants in a Chinese family with non-syndromic oligodontia and summarize the reported genotype-phenotype relationship of PAX9 variants. Methodology: We recruited 28 patients with non-syndromic oligodontia who were admitted to the Hospital of Stomatology Hebei Medical University (China) between 2018 and 2021. Peripheral blood was collected from the probands and their core family members for whole-exome sequencing (WES) and variants were verified by Sanger sequencing. Bioinformatics tools were used to predict the pathogenicity of the variants. SWISS-MODEL homology modeling was used to analyze the three-dimensional structural changes of variant proteins. We also analyzed the genotype-phenotype relationships of PAX9 variants. Results: We identified novel compound heterozygous PAX9 variants (reference sequence NM_001372076.1) in a Chinese family with non-syndromic oligodontia: a new missense variant c.1010C>A (p.T337K) in exon 4 and a new frameshift variant c.330_331insGT (p.D113Afs*9) in exon 2, which was identified as the pathogenic variant in this family. This expanded the known variant spectrum of PAX9, and we then summarized the phenotypes of non-syndromic oligodontia with PAX9 variants. Conclusion: We found that PAX9 variants commonly lead to loss of the second molars.2023-02-02info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by/4.0Medicine, Health and Life SciencesAnodontiaPAX9 Transcription FactorExome SequencingGenetic Association Studiesinfo:eu-repo/semantics/datasetinfo:eu-repo/semantics/datasetinfo:eu-repo/semantics/publishedVersionDatasetreponame:SciELO Datainstname:Scientific Electronic Library Online (SCIELO)instacron:SCIRepositório de Dados de PesquisaONGhttps://data.scielo.org/oai/requestdata@scielo.orgopendoar:2024-04-11T06:11:59SciELO Data - Scientific Electronic Library Online (SCIELO)falsedoi:10.48331/scielodata.OMMQEH |
dc.title.none.fl_str_mv |
A novel PAX9 compound heterozygous variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants |
title |
A novel PAX9 compound heterozygous variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants |
spellingShingle |
A novel PAX9 compound heterozygous variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants Ren, Jiabao Medicine, Health and Life Sciences Anodontia PAX9 Transcription Factor Exome Sequencing Genetic Association Studies |
title_short |
A novel PAX9 compound heterozygous variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants |
title_full |
A novel PAX9 compound heterozygous variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants |
title_fullStr |
A novel PAX9 compound heterozygous variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants |
title_full_unstemmed |
A novel PAX9 compound heterozygous variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants |
title_sort |
A novel PAX9 compound heterozygous variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants |
author |
Ren, Jiabao |
author_facet |
Ren, Jiabao Zhao, Ya Yuan, Yunyun Zhang, Jing Ding, Yulin Li, Meikang An, Yilin Chen, Wenjing Zhang, Li Liu, Boyu Zheng, Shushen Shen, Wenjing |
author_role |
author |
author2 |
Zhao, Ya Yuan, Yunyun Zhang, Jing Ding, Yulin Li, Meikang An, Yilin Chen, Wenjing Zhang, Li Liu, Boyu Zheng, Shushen Shen, Wenjing |
author2_role |
author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Ren, Jiabao Zhao, Ya Yuan, Yunyun Zhang, Jing Ding, Yulin Li, Meikang An, Yilin Chen, Wenjing Zhang, Li Liu, Boyu Zheng, Shushen Shen, Wenjing |
dc.subject.none.fl_str_mv |
Medicine, Health and Life Sciences Anodontia PAX9 Transcription Factor Exome Sequencing Genetic Association Studies |
topic |
Medicine, Health and Life Sciences Anodontia PAX9 Transcription Factor Exome Sequencing Genetic Association Studies |
description |
It has been reported that >91.9% of non-syndromic tooth agenesis cases are caused by seven pathogenic genes. Objective: Here, we report novel heterozygous PAX9 variants in a Chinese family with non-syndromic oligodontia and summarize the reported genotype-phenotype relationship of PAX9 variants. Methodology: We recruited 28 patients with non-syndromic oligodontia who were admitted to the Hospital of Stomatology Hebei Medical University (China) between 2018 and 2021. Peripheral blood was collected from the probands and their core family members for whole-exome sequencing (WES) and variants were verified by Sanger sequencing. Bioinformatics tools were used to predict the pathogenicity of the variants. SWISS-MODEL homology modeling was used to analyze the three-dimensional structural changes of variant proteins. We also analyzed the genotype-phenotype relationships of PAX9 variants. Results: We identified novel compound heterozygous PAX9 variants (reference sequence NM_001372076.1) in a Chinese family with non-syndromic oligodontia: a new missense variant c.1010C>A (p.T337K) in exon 4 and a new frameshift variant c.330_331insGT (p.D113Afs*9) in exon 2, which was identified as the pathogenic variant in this family. This expanded the known variant spectrum of PAX9, and we then summarized the phenotypes of non-syndromic oligodontia with PAX9 variants. Conclusion: We found that PAX9 variants commonly lead to loss of the second molars. |
publishDate |
2023 |
dc.date.issued.fl_str_mv |
2023-02-02 |
dc.type.openaire.fl_str_mv |
info:eu-repo/semantics/dataset |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.none.fl_str_mv |
info:eu-repo/semantics/dataset |
format |
dataset |
status_str |
publishedVersion |
dc.identifier.url.fl_str_mv |
https://doi.org/10.48331/scielodata.OMMQEH |
url |
https://doi.org/10.48331/scielodata.OMMQEH |
dc.rights.openaire.fl_str_mv |
info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/4.0 |
eu_rights_str_mv |
openAccess |
rights_invalid_str_mv |
http://creativecommons.org/licenses/by/4.0 |
dc.format.none.fl_str_mv |
Dataset |
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SciELO Data |
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SciELO Data |
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reponame:SciELO Data instname:Scientific Electronic Library Online (SCIELO) instacron:SCI |
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Scientific Electronic Library Online (SCIELO) |
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SCI |
institution |
SCI |
reponame_str |
SciELO Data |
collection |
SciELO Data |
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SciELO Data - Scientific Electronic Library Online (SCIELO) |
repository.mail.fl_str_mv |
data@scielo.org |
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