Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy

Lena Duchateau; Lorena Martín-Aguilar; Cinta Lleixà; Andrea Cortese; Oriol Dols-Icardo; Laura Cervera-Carles; Elba Pascual-Goñi; Jordi Diaz-Manera; Ilaria Calegari; Diego Franciotta; Ricard Rojas-Garcia; Isabel Illa; Jordi Clarimon; Luis Querol

doi:https://doi.org/10.1371/journal.pone.0212647

Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy

Lena Duchateau, Lorena Martín-Aguilar, Cinta Lleixà, Andrea Cortese, Oriol Dols-Icardo, Laura Cervera-Carles, Elba Pascual-Goñi, Jordi Diaz-Manera, Ilaria Calegari, Diego Franciotta, Ricard Rojas-Garcia, Isabel Illa, Jordi Clarimon, Luis Querol

Department of Medicine

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1 Citation (Scopus)

Abstract

© 2019 Duchateau et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. 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.

Original language	English
Article number	e0212647
Journal	PLoS ONE
Volume	14
DOIs	https://doi.org/10.1371/journal.pone.0212647
Publication status	Published - 1 Feb 2019

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Duchateau, L., Martín-Aguilar, L., Lleixà, C., Cortese, A., Dols-Icardo, O., Cervera-Carles, L., Pascual-Goñi, E., Diaz-Manera, J., Calegari, I., Franciotta, D., Rojas-Garcia, R., Illa, I., Clarimon, J., & Querol, L. (2019). Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy. PLoS ONE, 14, [e0212647]. https://doi.org/10.1371/journal.pone.0212647

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. In: PLoS ONE. 2019 ; Vol. 14.

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title = "Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy",

abstract = "{\textcopyright} 2019 Duchateau et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. 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.",

author = "Lena Duchateau and Lorena Mart{\'i}n-Aguilar and Cinta Lleix{\`a} and Andrea Cortese and Oriol Dols-Icardo and Laura Cervera-Carles and Elba Pascual-Go{\~n}i and Jordi Diaz-Manera and Ilaria Calegari and Diego Franciotta and Ricard Rojas-Garcia and Isabel Illa and Jordi Clarimon and Luis Querol",

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Duchateau, L, Martín-Aguilar, L, Lleixà, C, Cortese, A, Dols-Icardo, O, Cervera-Carles, L, Pascual-Goñi, E, Diaz-Manera, J, Calegari, I, Franciotta, D, Rojas-Garcia, R, Illa, I, Clarimon, J & Querol, L 2019, 'Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy', PLoS ONE, vol. 14, e0212647. https://doi.org/10.1371/journal.pone.0212647

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.

In: PLoS ONE, Vol. 14, e0212647, 01.02.2019.

Research output: Contribution to journal › Article › Research

TY - JOUR

T1 - Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy

AU - Duchateau, Lena

AU - Martín-Aguilar, Lorena

AU - Lleixà, Cinta

AU - Cortese, Andrea

AU - Dols-Icardo, Oriol

AU - Cervera-Carles, Laura

AU - Pascual-Goñi, Elba

AU - Diaz-Manera, Jordi

AU - Calegari, Ilaria

AU - Franciotta, Diego

AU - Rojas-Garcia, Ricard

AU - Illa, Isabel

AU - Clarimon, Jordi

AU - Querol, Luis

PY - 2019/2/1

Y1 - 2019/2/1

N2 - © 2019 Duchateau et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. 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.

AB - © 2019 Duchateau et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. 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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DO - https://doi.org/10.1371/journal.pone.0212647

M3 - Article

C2 - 30794663

VL - 14

M1 - e0212647

ER -

Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy

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