Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
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
_version_ 1783734071752392704
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
work_keys_str_mv AT guehlouzkhadidja aco2clinicobiologicaldatasetwithextensivephenotypeontologyannotation
AT foulonneauthomas aco2clinicobiologicaldatasetwithextensivephenotypeontologyannotation
AT amatibonneaupatrizia aco2clinicobiologicaldatasetwithextensivephenotypeontologyannotation
AT charifmajida aco2clinicobiologicaldatasetwithextensivephenotypeontologyannotation
AT colinestelle aco2clinicobiologicaldatasetwithextensivephenotypeontologyannotation
AT brisceline aco2clinicobiologicaldatasetwithextensivephenotypeontologyannotation
AT desquiretdumasvalerie aco2clinicobiologicaldatasetwithextensivephenotypeontologyannotation
AT mileadan aco2clinicobiologicaldatasetwithextensivephenotypeontologyannotation
AT gohierphilippe aco2clinicobiologicaldatasetwithextensivephenotypeontologyannotation
AT procacciovincent aco2clinicobiologicaldatasetwithextensivephenotypeontologyannotation
AT bonneaudominique aco2clinicobiologicaldatasetwithextensivephenotypeontologyannotation
AT dendunnenjohant aco2clinicobiologicaldatasetwithextensivephenotypeontologyannotation
AT lenaersguy aco2clinicobiologicaldatasetwithextensivephenotypeontologyannotation
AT reynierpascal aco2clinicobiologicaldatasetwithextensivephenotypeontologyannotation
AT ferremarc aco2clinicobiologicaldatasetwithextensivephenotypeontologyannotation