Novel PAX9 compound heterozygous variants 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: | Artigo |
Idioma: | eng |
Título da fonte: | Journal of applied oral science (Online) |
Texto Completo: | https://www.revistas.usp.br/jaos/article/view/210022 |
Resumo: | Studies have reported that >91.9% of non-syndromic tooth agenesis cases are caused by seven pathogenic genes. Objective: To 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) from 2018 to 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 discovery expands the known variant spectrum of PAX9; then, we 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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Journal of applied oral science (Online) |
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Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variantsTooth agenesisNon-syndromic oligodontiaPaired Box 9 ProteinWhole-exome sequencingGenotype-phenotypeStudies have reported that >91.9% of non-syndromic tooth agenesis cases are caused by seven pathogenic genes. Objective: To 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) from 2018 to 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 discovery expands the known variant spectrum of PAX9; then, we summarized the phenotypes of non-syndromic oligodontia with PAX9 variants. Conclusion: We found that PAX9 variants commonly lead to loss of the second molars.Universidade de São Paulo. Faculdade de Odontologia de Bauru2023-03-29info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://www.revistas.usp.br/jaos/article/view/21002210.1590/1678-7757-2022-0403Journal of Applied Oral Science; Vol. 31 (2023); e20220403Journal of Applied Oral Science; Vol. 31 (2023); e20220403Journal of Applied Oral Science; v. 31 (2023); e202204031678-77651678-7757reponame:Journal of applied oral science (Online)instname:Universidade de São Paulo (USP)instacron:USPenghttps://www.revistas.usp.br/jaos/article/view/210022/192543Copyright (c) 2023 Journal of Applied Oral Sciencehttp://creativecommons.org/licenses/by/4.0info:eu-repo/semantics/openAccessRen, JiabaoZhao, YaYuan, YunyunZhang, JingDing, YulinLi, MeikangAn, YilinChen, WenjingZhang, LiLiu, BoyuZheng, ShushenShen, Wenjing 2023-03-29T18:38:12Zoai:revistas.usp.br:article/210022Revistahttp://www.scielo.br/jaosPUBhttps://www.revistas.usp.br/jaos/oai||jaos@usp.br1678-77651678-7757opendoar:2023-03-29T18:38:12Journal of applied oral science (Online) - Universidade de São Paulo (USP)false |
dc.title.none.fl_str_mv |
Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants |
title |
Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants |
spellingShingle |
Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants Ren, Jiabao Tooth agenesis Non-syndromic oligodontia Paired Box 9 Protein Whole-exome sequencing Genotype-phenotype |
title_short |
Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants |
title_full |
Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants |
title_fullStr |
Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants |
title_full_unstemmed |
Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants |
title_sort |
Novel PAX9 compound heterozygous variants 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.por.fl_str_mv |
Tooth agenesis Non-syndromic oligodontia Paired Box 9 Protein Whole-exome sequencing Genotype-phenotype |
topic |
Tooth agenesis Non-syndromic oligodontia Paired Box 9 Protein Whole-exome sequencing Genotype-phenotype |
description |
Studies have reported that >91.9% of non-syndromic tooth agenesis cases are caused by seven pathogenic genes. Objective: To 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) from 2018 to 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 discovery expands the known variant spectrum of PAX9; then, we 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.none.fl_str_mv |
2023-03-29 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://www.revistas.usp.br/jaos/article/view/210022 10.1590/1678-7757-2022-0403 |
url |
https://www.revistas.usp.br/jaos/article/view/210022 |
identifier_str_mv |
10.1590/1678-7757-2022-0403 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
https://www.revistas.usp.br/jaos/article/view/210022/192543 |
dc.rights.driver.fl_str_mv |
Copyright (c) 2023 Journal of Applied Oral Science http://creativecommons.org/licenses/by/4.0 info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
Copyright (c) 2023 Journal of Applied Oral Science http://creativecommons.org/licenses/by/4.0 |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Universidade de São Paulo. Faculdade de Odontologia de Bauru |
publisher.none.fl_str_mv |
Universidade de São Paulo. Faculdade de Odontologia de Bauru |
dc.source.none.fl_str_mv |
Journal of Applied Oral Science; Vol. 31 (2023); e20220403 Journal of Applied Oral Science; Vol. 31 (2023); e20220403 Journal of Applied Oral Science; v. 31 (2023); e20220403 1678-7765 1678-7757 reponame:Journal of applied oral science (Online) instname:Universidade de São Paulo (USP) instacron:USP |
instname_str |
Universidade de São Paulo (USP) |
instacron_str |
USP |
institution |
USP |
reponame_str |
Journal of applied oral science (Online) |
collection |
Journal of applied oral science (Online) |
repository.name.fl_str_mv |
Journal of applied oral science (Online) - Universidade de São Paulo (USP) |
repository.mail.fl_str_mv |
||jaos@usp.br |
_version_ |
1800221683535052800 |