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Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing

Non-syndromic tooth agenesis (ns-TA) is one of the most common dental anomalies characterized by the congenital absence of at least one permanent tooth (excluding third molars). Regarding the essential role of genetic factors in ns-TA aetiology, the present study aimed to identify novel pathogenic v...

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Autores principales: Biedziak, Barbara, Firlej, Ewa, Dąbrowska, Justyna, Bogdanowicz, Agnieszka, Zadurska, Małgorzata, Mostowska, Adrianna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9605476/
https://www.ncbi.nlm.nih.gov/pubmed/36294409
http://dx.doi.org/10.3390/jcm11206089
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author Biedziak, Barbara
Firlej, Ewa
Dąbrowska, Justyna
Bogdanowicz, Agnieszka
Zadurska, Małgorzata
Mostowska, Adrianna
author_facet Biedziak, Barbara
Firlej, Ewa
Dąbrowska, Justyna
Bogdanowicz, Agnieszka
Zadurska, Małgorzata
Mostowska, Adrianna
author_sort Biedziak, Barbara
collection PubMed
description Non-syndromic tooth agenesis (ns-TA) is one of the most common dental anomalies characterized by the congenital absence of at least one permanent tooth (excluding third molars). Regarding the essential role of genetic factors in ns-TA aetiology, the present study aimed to identify novel pathogenic variants underlying hypodontia and oligodontia. In a group of 65 ns-TA patients and 127 healthy individuals from the genetically homogenous Polish population, the coding sequences of 423 candidate genes were screened using targeted next-generation sequencing. Pathogenic and likely pathogenic variants were identified in 37 (56.92%) patients, including eight nucleotide alternations of genes not previously implicated in ns-TA (CHD7, CREBBP, EVC, LEF1, ROR2, TBX22 and TP63). However, since only single variants were detected, future research is required to confirm and fully understand their role in the aetiology of ns-TA. Additionally, our results support the importance of already known ns-TA candidate genes (AXIN2, EDA, EDAR, IRF6, LAMA3, LRP6, MSX1, PAX9 and WNT10A) and provide additional evidence that ns-TA might be an oligogenic condition involving the cumulative effect of rare variants in two or more distinct genes.
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spelling pubmed-96054762022-10-27 Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing Biedziak, Barbara Firlej, Ewa Dąbrowska, Justyna Bogdanowicz, Agnieszka Zadurska, Małgorzata Mostowska, Adrianna J Clin Med Article Non-syndromic tooth agenesis (ns-TA) is one of the most common dental anomalies characterized by the congenital absence of at least one permanent tooth (excluding third molars). Regarding the essential role of genetic factors in ns-TA aetiology, the present study aimed to identify novel pathogenic variants underlying hypodontia and oligodontia. In a group of 65 ns-TA patients and 127 healthy individuals from the genetically homogenous Polish population, the coding sequences of 423 candidate genes were screened using targeted next-generation sequencing. Pathogenic and likely pathogenic variants were identified in 37 (56.92%) patients, including eight nucleotide alternations of genes not previously implicated in ns-TA (CHD7, CREBBP, EVC, LEF1, ROR2, TBX22 and TP63). However, since only single variants were detected, future research is required to confirm and fully understand their role in the aetiology of ns-TA. Additionally, our results support the importance of already known ns-TA candidate genes (AXIN2, EDA, EDAR, IRF6, LAMA3, LRP6, MSX1, PAX9 and WNT10A) and provide additional evidence that ns-TA might be an oligogenic condition involving the cumulative effect of rare variants in two or more distinct genes. MDPI 2022-10-15 /pmc/articles/PMC9605476/ /pubmed/36294409 http://dx.doi.org/10.3390/jcm11206089 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Biedziak, Barbara
Firlej, Ewa
Dąbrowska, Justyna
Bogdanowicz, Agnieszka
Zadurska, Małgorzata
Mostowska, Adrianna
Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing
title Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing
title_full Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing
title_fullStr Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing
title_full_unstemmed Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing
title_short Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing
title_sort novel candidate genes for non-syndromic tooth agenesis identified using targeted next-generation sequencing
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9605476/
https://www.ncbi.nlm.nih.gov/pubmed/36294409
http://dx.doi.org/10.3390/jcm11206089
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