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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 incl...

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Autores principales: Duchateau, Lena, Martín-Aguilar, Lorena, Lleixà, Cinta, Cortese, Andrea, Dols-Icardo, Oriol, Cervera-Carles, Laura, Pascual-Goñi, Elba, Diaz-Manera, Jordi, Calegari, Ilaria, Franciotta, Diego, Rojas-Garcia, Ricard, Illa, Isabel, Clarimon, Jordi, Querol, Luis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6386293/
https://www.ncbi.nlm.nih.gov/pubmed/30794663
http://dx.doi.org/10.1371/journal.pone.0212647
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author Duchateau, Lena
Martín-Aguilar, Lorena
Lleixà, Cinta
Cortese, Andrea
Dols-Icardo, Oriol
Cervera-Carles, Laura
Pascual-Goñi, Elba
Diaz-Manera, Jordi
Calegari, Ilaria
Franciotta, Diego
Rojas-Garcia, Ricard
Illa, Isabel
Clarimon, Jordi
Querol, Luis
author_facet Duchateau, Lena
Martín-Aguilar, Lorena
Lleixà, Cinta
Cortese, Andrea
Dols-Icardo, Oriol
Cervera-Carles, Laura
Pascual-Goñi, Elba
Diaz-Manera, Jordi
Calegari, Ilaria
Franciotta, Diego
Rojas-Garcia, Ricard
Illa, Isabel
Clarimon, Jordi
Querol, Luis
author_sort Duchateau, Lena
collection PubMed
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.
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spelling pubmed-63862932019-03-09 Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy Duchateau, Lena Martín-Aguilar, Lorena Lleixà, Cinta Cortese, Andrea Dols-Icardo, Oriol Cervera-Carles, Laura Pascual-Goñi, Elba Diaz-Manera, Jordi Calegari, Ilaria Franciotta, Diego Rojas-Garcia, Ricard Illa, Isabel Clarimon, Jordi Querol, Luis PLoS One Research Article 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. Public Library of Science 2019-02-22 /pmc/articles/PMC6386293/ /pubmed/30794663 http://dx.doi.org/10.1371/journal.pone.0212647 Text en © 2019 Duchateau et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Duchateau, Lena
Martín-Aguilar, Lorena
Lleixà, Cinta
Cortese, Andrea
Dols-Icardo, Oriol
Cervera-Carles, Laura
Pascual-Goñi, Elba
Diaz-Manera, Jordi
Calegari, Ilaria
Franciotta, Diego
Rojas-Garcia, Ricard
Illa, Isabel
Clarimon, Jordi
Querol, Luis
Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy
title 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_short Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy
title_sort absence of pathogenic mutations in cd59 in chronic inflammatory demyelinating polyradiculoneuropathy
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6386293/
https://www.ncbi.nlm.nih.gov/pubmed/30794663
http://dx.doi.org/10.1371/journal.pone.0212647
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