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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...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2019
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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. |
format | Online Article Text |
id | pubmed-6386293 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
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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