Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree

Most patients suffering from Leber hereditary optic neuropathy carry one of the three classic pathologic mutations, but not all individuals with these genetic alterations develop the disease. There are different risk factors that modify the penetrance of these mutations. The remaining patients carry...

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Autores: Emperador, Sonia, Habbane, Mouna, López-Gallardo, Ester, Del Rio, Alejandro, Llobet, Laura, Mateo, Javier, Sanz-López, Ana María, Fernández-García, María José, Sánchez-Tocino, Hortensia, Benbunan-Ferreiro, Sol, Calabuig-Goena, María, Narvaez-Palazón, Carlos, Fernández-Vega, Beatriz, González-Iglesias, Héctor, Urreizti, Roser, Artuch, Rafael, Pacheu-Grau, David, Bayona-Bafaluy, Pilar, Montoya, Julio, Ruiz-Pesini, Eduardo
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/368242
Acceso en línea:http://hdl.handle.net/10261/368242
https://api.elsevier.com/content/abstract/scopus_id/85189643102
Access Level:acceso abierto
Palabra clave:Incomplete penetrance
Large pedigree
Leber hereditary optic neuropathy
Mitochondrial DNA
Pathologic mutation
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repository_id_str
spelling Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigreeEmperador, SoniaHabbane, MounaLópez-Gallardo, EsterDel Rio, AlejandroLlobet, LauraMateo, JavierSanz-López, Ana MaríaFernández-García, María JoséSánchez-Tocino, HortensiaBenbunan-Ferreiro, SolCalabuig-Goena, MaríaNarvaez-Palazón, CarlosFernández-Vega, BeatrizGonzález-Iglesias, HéctorUrreizti, RoserArtuch, RafaelPacheu-Grau, DavidBayona-Bafaluy, PilarMontoya, JulioRuiz-Pesini, EduardoIncomplete penetranceLarge pedigreeLeber hereditary optic neuropathyMitochondrial DNAPathologic mutationMost patients suffering from Leber hereditary optic neuropathy carry one of the three classic pathologic mutations, but not all individuals with these genetic alterations develop the disease. There are different risk factors that modify the penetrance of these mutations. The remaining patients carry one of a set of very rare genetic variants and, it appears that, some of the risk factors that modify the penetrance of the classical pathologic mutations may also affect the phenotype of these other rare mutations.This work was supported by grants from Instituto de Salud Carlos III [FIS-PI20/00340 and FIS-PI21/00229] and European Regional Development Fund (FEDER); Ministerio de Ciencia e Innovación [PID2020-116970GA-I00 and RYC2020-029544-I funded by MCIN/AEI/https://doi.org/10.13039/501100011033 and by “ESF Investing in your future”]; Gobierno de Aragón [LMP22_21; Grupos Consolidados B33_23R]; Fundación Mutua Madrileña [MMA]; and Precipita-FECYT crowfunding program [PR194]. CIBERER is an initiative of the ISCIII.Peer reviewedBioMed CentralInstituto de Salud Carlos IIIEuropean CommissionAgencia Estatal de Investigación (España)Ministerio de Ciencia, Innovación y Universidades (España)Gobierno de AragónFundación Mutua MadrileñaCentro de Investigación Biomédica en Red Enfermedades Raras (España)Fundación Española para la Ciencia y la TecnologíaGonzález-Iglesias, Héctor [0000-0001-5251-0967]Ruiz-Pesini, Eduardo [0000-0002-0269-7337]Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]202420242024info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501Publisher's versioninfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10261/368242https://api.elsevier.com/content/abstract/scopus_id/85189643102reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Inglés#PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE#info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/PID2020-116970GA-I00info:eu-repo/grantAgreement/AEI//RYC2020-029544-IEmperador, Sonia; Habbane, Mouna; López-Gallardo, Ester; Del Rio, Alejandro; Llobet, Laura; Mateo, Javier; Sanz-López, Ana María; Fernández-García, María José; Sánchez-Tocino, Hortensia; Benbunan-Ferreiro, Sol; Calabuig-Goena, María; Narvaez-Palazón, Carlos; Fernández-Vega, Beatriz; González-Iglesias, Héctor; Urreizti, Roser; Artuch, Rafael; Pacheu-Grau, David; Bayona-Bafaluy, Pilar; Montoya, Julio; Ruiz-Pesini, Eduardo; 2024; Supplementary Information Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree [Dataset]; BioMed Central; https://doi.org/10.1186/s13023-024-03165-2https://doi.org/10.1186/s13023-024-03165-2Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/3682422026-05-22T06:33:51Z
dc.title.none.fl_str_mv Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree
title Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree
spellingShingle Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree
Emperador, Sonia
Incomplete penetrance
Large pedigree
Leber hereditary optic neuropathy
Mitochondrial DNA
Pathologic mutation
title_short Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree
title_full Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree
title_fullStr Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree
title_full_unstemmed Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree
title_sort Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree
dc.creator.none.fl_str_mv Emperador, Sonia
Habbane, Mouna
López-Gallardo, Ester
Del Rio, Alejandro
Llobet, Laura
Mateo, Javier
Sanz-López, Ana María
Fernández-García, María José
Sánchez-Tocino, Hortensia
Benbunan-Ferreiro, Sol
Calabuig-Goena, María
Narvaez-Palazón, Carlos
Fernández-Vega, Beatriz
González-Iglesias, Héctor
Urreizti, Roser
Artuch, Rafael
Pacheu-Grau, David
Bayona-Bafaluy, Pilar
Montoya, Julio
Ruiz-Pesini, Eduardo
author Emperador, Sonia
author_facet Emperador, Sonia
Habbane, Mouna
López-Gallardo, Ester
Del Rio, Alejandro
Llobet, Laura
Mateo, Javier
Sanz-López, Ana María
Fernández-García, María José
Sánchez-Tocino, Hortensia
Benbunan-Ferreiro, Sol
Calabuig-Goena, María
Narvaez-Palazón, Carlos
Fernández-Vega, Beatriz
González-Iglesias, Héctor
Urreizti, Roser
Artuch, Rafael
Pacheu-Grau, David
Bayona-Bafaluy, Pilar
Montoya, Julio
Ruiz-Pesini, Eduardo
author_role author
author2 Habbane, Mouna
López-Gallardo, Ester
Del Rio, Alejandro
Llobet, Laura
Mateo, Javier
Sanz-López, Ana María
Fernández-García, María José
Sánchez-Tocino, Hortensia
Benbunan-Ferreiro, Sol
Calabuig-Goena, María
Narvaez-Palazón, Carlos
Fernández-Vega, Beatriz
González-Iglesias, Héctor
Urreizti, Roser
Artuch, Rafael
Pacheu-Grau, David
Bayona-Bafaluy, Pilar
Montoya, Julio
Ruiz-Pesini, Eduardo
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Instituto de Salud Carlos III
European Commission
Agencia Estatal de Investigación (España)
Ministerio de Ciencia, Innovación y Universidades (España)
Gobierno de Aragón
Fundación Mutua Madrileña
Centro de Investigación Biomédica en Red Enfermedades Raras (España)
Fundación Española para la Ciencia y la Tecnología
González-Iglesias, Héctor [0000-0001-5251-0967]
Ruiz-Pesini, Eduardo [0000-0002-0269-7337]
Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv Incomplete penetrance
Large pedigree
Leber hereditary optic neuropathy
Mitochondrial DNA
Pathologic mutation
topic Incomplete penetrance
Large pedigree
Leber hereditary optic neuropathy
Mitochondrial DNA
Pathologic mutation
description Most patients suffering from Leber hereditary optic neuropathy carry one of the three classic pathologic mutations, but not all individuals with these genetic alterations develop the disease. There are different risk factors that modify the penetrance of these mutations. The remaining patients carry one of a set of very rare genetic variants and, it appears that, some of the risk factors that modify the penetrance of the classical pathologic mutations may also affect the phenotype of these other rare mutations.
publishDate 2024
dc.date.none.fl_str_mv 2024
2024
2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_6501
Publisher's version
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/368242
https://api.elsevier.com/content/abstract/scopus_id/85189643102
url http://hdl.handle.net/10261/368242
https://api.elsevier.com/content/abstract/scopus_id/85189643102
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv #PLACEHOLDER_PARENT_METADATA_VALUE#
#PLACEHOLDER_PARENT_METADATA_VALUE#
info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/PID2020-116970GA-I00
info:eu-repo/grantAgreement/AEI//RYC2020-029544-I
Emperador, Sonia; Habbane, Mouna; López-Gallardo, Ester; Del Rio, Alejandro; Llobet, Laura; Mateo, Javier; Sanz-López, Ana María; Fernández-García, María José; Sánchez-Tocino, Hortensia; Benbunan-Ferreiro, Sol; Calabuig-Goena, María; Narvaez-Palazón, Carlos; Fernández-Vega, Beatriz; González-Iglesias, Héctor; Urreizti, Roser; Artuch, Rafael; Pacheu-Grau, David; Bayona-Bafaluy, Pilar; Montoya, Julio; Ruiz-Pesini, Eduardo; 2024; Supplementary Information Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree [Dataset]; BioMed Central; https://doi.org/10.1186/s13023-024-03165-2
https://doi.org/10.1186/s13023-024-03165-2
Sí
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv BioMed Central
publisher.none.fl_str_mv BioMed Central
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str DIGITAL.CSIC. Repositorio Institucional del CSIC
collection DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.811543

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