Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy

Duchateau, L.; Martín-Aguilar, Lorena|||0000-0002-1553-2224; Lleixà, Cinta|||0000-0002-9971-0584; Cortese, Andrea; Dols Icardo, Oriol|||0000-0003-2656-8748; Cervera Carles, Laura|||0000-0003-2286-200X; Pascual-Goñi, Elba|||0000-0001-7336-4305; Diaz-Manera, Jordi|||0000-0003-2941-7988; Calegari, I.; Franciotta, Diego; Rojas-Garcia, Ricard|||0000-0003-1411-5573; Illa, Isabel|||0000-0002-2186-2684; Clarimón, Jordi|||0000-0002-6824-6942; Querol, Luis|||0000-0002-4289-8264

Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy

Objective Mutations in CD59 cause CIDP-like polyneuropathy in children with inherited chronic hemolysis. We hypothesized that mutations in CD59 might be found in a subset of sporadic CIDP patients. Methods 35 patients from two centers, fulfilling the EFNS/PNS diagnostic criteria for CIDP were includ...

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Autores:	Duchateau, L., Martín-Aguilar, Lorena\|\|\|0000-0002-1553-2224, Lleixà, Cinta\|\|\|0000-0002-9971-0584, Cortese, Andrea, Dols Icardo, Oriol\|\|\|0000-0003-2656-8748, Cervera Carles, Laura\|\|\|0000-0003-2286-200X, Pascual-Goñi, Elba\|\|\|0000-0001-7336-4305, Diaz-Manera, Jordi\|\|\|0000-0003-2941-7988, Calegari, I., Franciotta, Diego, Rojas-Garcia, Ricard\|\|\|0000-0003-1411-5573, Illa, Isabel\|\|\|0000-0002-2186-2684, Clarimón, Jordi\|\|\|0000-0002-6824-6942, Querol, Luis\|\|\|0000-0002-4289-8264
Tipo de recurso:	artículo
Fecha de publicación:	2019
País:	España
Institución:	Universitat Autònoma de Barcelona
Repositorio:	Dipòsit Digital de Documents de la UAB
Idioma:	inglés
OAI Identifier:	oai:ddd.uab.cat:222665
Acceso en línea:	https://ddd.uab.cat/record/222665 https://dx.doi.org/urn:doi:10.1371/journal.pone.0212647
Access Level:	acceso abierto
Palabra clave:	CD59 Antigens Female Humans Male Middle Aged Mutation Pilot Projects Polyradiculoneuropathy, Chronic Inflammatory Demyelinating

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spelling	Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathyDuchateau, L.Martín-Aguilar, Lorena\|\|\|0000-0002-1553-2224Lleixà, Cinta\|\|\|0000-0002-9971-0584Cortese, AndreaDols Icardo, Oriol\|\|\|0000-0003-2656-8748Cervera Carles, Laura\|\|\|0000-0003-2286-200XPascual-Goñi, Elba\|\|\|0000-0001-7336-4305Diaz-Manera, Jordi\|\|\|0000-0003-2941-7988Calegari, I.Franciotta, DiegoRojas-Garcia, Ricard\|\|\|0000-0003-1411-5573Illa, Isabel\|\|\|0000-0002-2186-2684Clarimón, Jordi\|\|\|0000-0002-6824-6942Querol, Luis\|\|\|0000-0002-4289-8264CD59 AntigensFemaleHumansMaleMiddle AgedMutationPilot ProjectsPolyradiculoneuropathy, Chronic Inflammatory DemyelinatingObjective Mutations in CD59 cause CIDP-like polyneuropathy in children with inherited chronic hemolysis. We hypothesized that mutations in CD59 might be found in a subset of sporadic CIDP patients. Methods 35 patients from two centers, fulfilling the EFNS/PNS diagnostic criteria for CIDP were included. CD59 coding region was amplified by PCR and Sanger sequenced. Results One rare variant was detected in a patient which resulted in a synonymous change and predicted to be neutral. Pathogenic variants were absent in our cohort. Interpretation Our pilot study suggests that mutations in CD59 are absent in adult-onset sporadic CIDP.Universitat Autònoma de Barcelona 22019-01-0120192019-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/222665https://dx.doi.org/urn:doi:10.1371/journal.pone.0212647reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengMinisterio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI15-00283Agència de Gestió d'Ajuts Universitaris i de Recerca https://doi.org/10.13039/501100003030 2017/SGR-1343Agència de Gestió d'Ajuts Universitaris i de Recerca https://doi.org/10.13039/501100003030 2017/SGR-1365open accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:2226652026-06-06T12:50:31Z
dc.title.none.fl_str_mv	Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy
title	Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy
spellingShingle	Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy Duchateau, L. CD59 Antigens Female Humans Male Middle Aged Mutation Pilot Projects Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
title_short	Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy
title_full	Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy
title_fullStr	Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy
title_full_unstemmed	Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy
title_sort	Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy
dc.creator.none.fl_str_mv	Duchateau, L. Martín-Aguilar, Lorena\|\|\|0000-0002-1553-2224 Lleixà, Cinta\|\|\|0000-0002-9971-0584 Cortese, Andrea Dols Icardo, Oriol\|\|\|0000-0003-2656-8748 Cervera Carles, Laura\|\|\|0000-0003-2286-200X Pascual-Goñi, Elba\|\|\|0000-0001-7336-4305 Diaz-Manera, Jordi\|\|\|0000-0003-2941-7988 Calegari, I. Franciotta, Diego Rojas-Garcia, Ricard\|\|\|0000-0003-1411-5573 Illa, Isabel\|\|\|0000-0002-2186-2684 Clarimón, Jordi\|\|\|0000-0002-6824-6942 Querol, Luis\|\|\|0000-0002-4289-8264
author	Duchateau, L.
author_facet	Duchateau, L. Martín-Aguilar, Lorena\|\|\|0000-0002-1553-2224 Lleixà, Cinta\|\|\|0000-0002-9971-0584 Cortese, Andrea Dols Icardo, Oriol\|\|\|0000-0003-2656-8748 Cervera Carles, Laura\|\|\|0000-0003-2286-200X Pascual-Goñi, Elba\|\|\|0000-0001-7336-4305 Diaz-Manera, Jordi\|\|\|0000-0003-2941-7988 Calegari, I. Franciotta, Diego Rojas-Garcia, Ricard\|\|\|0000-0003-1411-5573 Illa, Isabel\|\|\|0000-0002-2186-2684 Clarimón, Jordi\|\|\|0000-0002-6824-6942 Querol, Luis\|\|\|0000-0002-4289-8264
author_role	author
author2	Martín-Aguilar, Lorena\|\|\|0000-0002-1553-2224 Lleixà, Cinta\|\|\|0000-0002-9971-0584 Cortese, Andrea Dols Icardo, Oriol\|\|\|0000-0003-2656-8748 Cervera Carles, Laura\|\|\|0000-0003-2286-200X Pascual-Goñi, Elba\|\|\|0000-0001-7336-4305 Diaz-Manera, Jordi\|\|\|0000-0003-2941-7988 Calegari, I. Franciotta, Diego Rojas-Garcia, Ricard\|\|\|0000-0003-1411-5573 Illa, Isabel\|\|\|0000-0002-2186-2684 Clarimón, Jordi\|\|\|0000-0002-6824-6942 Querol, Luis\|\|\|0000-0002-4289-8264
author2_role	author author author author author author author author author author author author author
dc.contributor.none.fl_str_mv	Universitat Autònoma de Barcelona
dc.subject.none.fl_str_mv	CD59 Antigens Female Humans Male Middle Aged Mutation Pilot Projects Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
topic	CD59 Antigens Female Humans Male Middle Aged Mutation Pilot Projects Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
description	Objective Mutations in CD59 cause CIDP-like polyneuropathy in children with inherited chronic hemolysis. We hypothesized that mutations in CD59 might be found in a subset of sporadic CIDP patients. Methods 35 patients from two centers, fulfilling the EFNS/PNS diagnostic criteria for CIDP were included. CD59 coding region was amplified by PCR and Sanger sequenced. Results One rare variant was detected in a patient which resulted in a synonymous change and predicted to be neutral. Pathogenic variants were absent in our cohort. Interpretation Our pilot study suggests that mutations in CD59 are absent in adult-onset sporadic CIDP.
publishDate	2019
dc.date.none.fl_str_mv	2 2019-01-01 2019 2019-01-01
dc.type.none.fl_str_mv	Article http://purl.org/coar/resource_type/c_6501 VoR http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv	info:eu-repo/semantics/article
format	article
dc.identifier.none.fl_str_mv	https://ddd.uab.cat/record/222665 https://dx.doi.org/urn:doi:10.1371/journal.pone.0212647
url	https://ddd.uab.cat/record/222665 https://dx.doi.org/urn:doi:10.1371/journal.pone.0212647
dc.language.none.fl_str_mv	Inglés eng
language_invalid_str_mv	Inglés
language	eng
dc.relation.none.fl_str_mv	Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI15-00283 Agència de Gestió d'Ajuts Universitaris i de Recerca https://doi.org/10.13039/501100003030 2017/SGR-1343 Agència de Gestió d'Ajuts Universitaris i de Recerca https://doi.org/10.13039/501100003030 2017/SGR-1365
dc.rights.none.fl_str_mv	open access http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv	info:eu-repo/semantics/openAccess
rights_invalid_str_mv	open access http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv	openAccess
dc.format.none.fl_str_mv	application/pdf
dc.source.none.fl_str_mv	reponame:Dipòsit Digital de Documents de la UAB instname:Universitat Autònoma de Barcelona
instname_str	Universitat Autònoma de Barcelona
reponame_str	Dipòsit Digital de Documents de la UAB
collection	Dipòsit Digital de Documents de la UAB
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repository.mail.fl_str_mv
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Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy

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