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Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy.

Authors :
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
Source :
PloS one [PLoS One] 2019 Feb 22; Vol. 14 (2), pp. e0212647. Date of Electronic Publication: 2019 Feb 22 (Print Publication: 2019).
Publication Year :
2019

Abstract

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.<br />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.<br />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.<br />Interpretation: Our pilot study suggests that mutations in CD59 are absent in adult-onset sporadic CIDP.<br />Competing Interests: LQ has provided expert testimony for Grifols, Genzyme and CSL Behring, received speaking honoraria from Biogen Spain and Roche and received research funds from Grifols (Spin Award) and LFB. This does not alter the authors' adherence to PLOS ONE policies on sharing data and materials.

Details

Language :
English
ISSN :
1932-6203
Volume :
14
Issue :
2
Database :
MEDLINE
Journal :
PloS one
Publication Type :
Academic Journal
Accession number :
30794663
Full Text :
https://doi.org/10.1371/journal.pone.0212647