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ACO2 clinicobiological dataset with extensive phenotype ontology annotation
Pathogenic variants of the aconitase 2 gene (ACO2) are responsible for a broad clinical spectrum involving optic nerve degeneration, ranging from isolated optic neuropathy with recessive or dominant inheritance, to complex neurodegenerative syndromes with recessive transmission. We created the first...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Nature Publishing Group UK
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8342444/ https://www.ncbi.nlm.nih.gov/pubmed/34354088 http://dx.doi.org/10.1038/s41597-021-00984-x |
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author | Guehlouz, Khadidja Foulonneau, Thomas Amati-Bonneau, Patrizia Charif, Majida Colin, Estelle Bris, Céline Desquiret-Dumas, Valérie Milea, Dan Gohier, Philippe Procaccio, Vincent Bonneau, Dominique den Dunnen, Johan T. Lenaers, Guy Reynier, Pascal Ferré, Marc |
author_facet | Guehlouz, Khadidja Foulonneau, Thomas Amati-Bonneau, Patrizia Charif, Majida Colin, Estelle Bris, Céline Desquiret-Dumas, Valérie Milea, Dan Gohier, Philippe Procaccio, Vincent Bonneau, Dominique den Dunnen, Johan T. Lenaers, Guy Reynier, Pascal Ferré, Marc |
author_sort | Guehlouz, Khadidja |
collection | PubMed |
description | Pathogenic variants of the aconitase 2 gene (ACO2) are responsible for a broad clinical spectrum involving optic nerve degeneration, ranging from isolated optic neuropathy with recessive or dominant inheritance, to complex neurodegenerative syndromes with recessive transmission. We created the first public locus-specific database (LSDB) dedicated to ACO2 within the “Global Variome shared LOVD” using exclusively the Human Phenotype Ontology (HPO), a standard vocabulary for describing phenotypic abnormalities. All the variants and clinical cases listed in the literature were incorporated into the database, from which we produced a dataset. We followed a rational and comprehensive approach based on the HPO thesaurus, demonstrating that ACO2 patients should not be classified separately between isolated and syndromic cases. Our data highlight that certain syndromic patients do not have optic neuropathy and provide support for the classification of the recurrent pathogenic variants c.220C>G and c.336C>G as likely pathogenic. Overall, our data records demonstrate that the clinical spectrum of ACO2 should be considered as a continuum of symptoms and refines the classification of some common variants. |
format | Online Article Text |
id | pubmed-8342444 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-83424442021-08-20 ACO2 clinicobiological dataset with extensive phenotype ontology annotation Guehlouz, Khadidja Foulonneau, Thomas Amati-Bonneau, Patrizia Charif, Majida Colin, Estelle Bris, Céline Desquiret-Dumas, Valérie Milea, Dan Gohier, Philippe Procaccio, Vincent Bonneau, Dominique den Dunnen, Johan T. Lenaers, Guy Reynier, Pascal Ferré, Marc Sci Data Data Descriptor Pathogenic variants of the aconitase 2 gene (ACO2) are responsible for a broad clinical spectrum involving optic nerve degeneration, ranging from isolated optic neuropathy with recessive or dominant inheritance, to complex neurodegenerative syndromes with recessive transmission. We created the first public locus-specific database (LSDB) dedicated to ACO2 within the “Global Variome shared LOVD” using exclusively the Human Phenotype Ontology (HPO), a standard vocabulary for describing phenotypic abnormalities. All the variants and clinical cases listed in the literature were incorporated into the database, from which we produced a dataset. We followed a rational and comprehensive approach based on the HPO thesaurus, demonstrating that ACO2 patients should not be classified separately between isolated and syndromic cases. Our data highlight that certain syndromic patients do not have optic neuropathy and provide support for the classification of the recurrent pathogenic variants c.220C>G and c.336C>G as likely pathogenic. Overall, our data records demonstrate that the clinical spectrum of ACO2 should be considered as a continuum of symptoms and refines the classification of some common variants. Nature Publishing Group UK 2021-08-05 /pmc/articles/PMC8342444/ /pubmed/34354088 http://dx.doi.org/10.1038/s41597-021-00984-x Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) applies to the metadata files associated with this article. |
spellingShingle | Data Descriptor Guehlouz, Khadidja Foulonneau, Thomas Amati-Bonneau, Patrizia Charif, Majida Colin, Estelle Bris, Céline Desquiret-Dumas, Valérie Milea, Dan Gohier, Philippe Procaccio, Vincent Bonneau, Dominique den Dunnen, Johan T. Lenaers, Guy Reynier, Pascal Ferré, Marc ACO2 clinicobiological dataset with extensive phenotype ontology annotation |
title | ACO2 clinicobiological dataset with extensive phenotype ontology annotation |
title_full | ACO2 clinicobiological dataset with extensive phenotype ontology annotation |
title_fullStr | ACO2 clinicobiological dataset with extensive phenotype ontology annotation |
title_full_unstemmed | ACO2 clinicobiological dataset with extensive phenotype ontology annotation |
title_short | ACO2 clinicobiological dataset with extensive phenotype ontology annotation |
title_sort | aco2 clinicobiological dataset with extensive phenotype ontology annotation |
topic | Data Descriptor |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8342444/ https://www.ncbi.nlm.nih.gov/pubmed/34354088 http://dx.doi.org/10.1038/s41597-021-00984-x |
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