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dc.contributor.author | Sevilla, T. | es_ES |
dc.contributor.author | Sivera, R. | es_ES |
dc.contributor.author | Martínez-Rubio, D. | es_ES |
dc.contributor.author | Lupo, V. | es_ES |
dc.contributor.author | Chumillas, M.J. | es_ES |
dc.contributor.author | Calpena-Corpas, E. | es_ES |
dc.contributor.author | Dopazo, J. | es_ES |
dc.contributor.author | Vílchez, J.J. | es_ES |
dc.contributor.author | Palau, F. | es_ES |
dc.contributor.author | Espinós-Armero, Carmen Ángeles | es_ES |
dc.date.accessioned | 2024-01-03T19:04:27Z | |
dc.date.available | 2024-01-03T19:04:27Z | |
dc.date.issued | 2015-12 | es_ES |
dc.identifier.issn | 1351-5101 | es_ES |
dc.identifier.uri | http://hdl.handle.net/10251/201430 | |
dc.description.abstract | [EN] Background and purpose: A three-generation family affected by axonal Charcot-Marie-Tooth disease (CMT) was investigated with the aim of discovering genetic defects and to further characterize the phenotype. Methods: The clinical, nerve conduction studies and muscle magnetic resonance images of the patients were reviewed. A whole exome sequencing was performed and the changes were investigated by genetic studies, in silico analysis and luciferase reporter assays. Results: A novel c.1226G>A change (p.R409Q) in the EGR2 gene was identified. Patients presented with a typical, late-onset axonal CMT phenotype with variable severity that was confirmed in the ancillary tests. The in silico studies showed that the residue R409 is an evolutionary conserved amino acid. The p.R409Q mutation, which is predicted as probably damaging, would alter the conformation of the protein slightly and would cause a decrease of gene expression. Conclusions: This is the first report of an EGR2 mutation presenting as an axonal CMT phenotype with variable severity. This study broadens the phenotype of the EGR2-related neuropathies and suggests that the genetic testing of patients suffering from axonal CMT should include the EGR2 gene. | es_ES |
dc.description.sponsorship | This collaborative joint project is awarded by IRDiRC and funded by the Instituto de Salud Carlos III (ISCIII) - Subdireccion General de Evaluacion y Fomento de la Investigacion within the framework of the National R+D+I Plan (Grants IR11/TREAT-CMT, PI12/00946 and PI12/00453), co-funded with FEDER funds. C.E. has a "Miguel Servet' contract funded by the ISCIII and Centro de Investigacion Principe Felipe (CIPF) (Grant no. CPII14/00002). We are also grateful to Itziar Llopis for sample management. | es_ES |
dc.language | Inglés | es_ES |
dc.publisher | Blackwell Publishing | es_ES |
dc.relation.ispartof | European Journal of Neurology | es_ES |
dc.rights | Reserva de todos los derechos | es_ES |
dc.subject | Charcot-Marie-Tooth disease | es_ES |
dc.subject | EGR2 gene | es_ES |
dc.subject | Hereditary motor sensory neuropathy | es_ES |
dc.subject | Whole exome sequencing | es_ES |
dc.subject.classification | BIOLOGIA CELULAR | es_ES |
dc.title | The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease | es_ES |
dc.type | Artículo | es_ES |
dc.identifier.doi | 10.1111/ene.12782 | es_ES |
dc.relation.projectID | info:eu-repo/grantAgreement/MINECO//CPII14%2F00002/ES/CPII14%2F00002/ | es_ES |
dc.relation.projectID | info:eu-repo/grantAgreement/MINECO//PI12%2F00453/ES/Investigación traslacional y mecanismos de enfermedad en neuropatías periféricas hereditarias/ | es_ES |
dc.relation.projectID | info:eu-repo/grantAgreement/ISCIII//PI12%2F0946/ | es_ES |
dc.relation.projectID | info:eu-repo/grantAgreement/ISCIII//MIguel Servet/ | es_ES |
dc.relation.projectID | info:eu-repo/grantAgreement/ISCIII//IR11%2FTREAT-CMT//Translational Research, Experimental Medicine and Therapeutics on Charcot-Marie-Tooth disease / | es_ES |
dc.relation.projectID | info:eu-repo/grantAgreement/ISCIII//PI12%2F00453//Investigación traslacional y mecanismos de enfermedad en neuropatías periféricas hereditarias/ | es_ES |
dc.relation.projectID | info:eu-repo/grantAgreement/MINECO//CPII14%2F00002//CPII14/00002/ | es_ES |
dc.rights.accessRights | Abierto | es_ES |
dc.contributor.affiliation | Universitat Politècnica de València. Escuela Técnica Superior de Ingeniería Agronómica y del Medio Natural - Escola Tècnica Superior d'Enginyeria Agronòmica i del Medi Natural | es_ES |
dc.description.bibliographicCitation | Sevilla, T.; Sivera, R.; Martínez-Rubio, D.; Lupo, V.; Chumillas, M.; Calpena-Corpas, E.; Dopazo, J.... (2015). The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease. European Journal of Neurology. 22(12):1548-1555. https://doi.org/10.1111/ene.12782 | es_ES |
dc.description.accrualMethod | S | es_ES |
dc.relation.publisherversion | https://doi.org/10.1111/ene.12782 | es_ES |
dc.description.upvformatpinicio | 1548 | es_ES |
dc.description.upvformatpfin | 1555 | es_ES |
dc.type.version | info:eu-repo/semantics/publishedVersion | es_ES |
dc.description.volume | 22 | es_ES |
dc.description.issue | 12 | es_ES |
dc.identifier.pmid | 26204789 | es_ES |
dc.relation.pasarela | S\506114 | es_ES |
dc.contributor.funder | Instituto de Salud Carlos III | es_ES |
dc.contributor.funder | European Regional Development Fund | es_ES |
dc.contributor.funder | Ministerio de Economía y Competitividad | es_ES |