Format

Send to

Choose Destination
PLoS One. 2019 Feb 22;14(2):e0212647. doi: 10.1371/journal.pone.0212647. eCollection 2019.

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

Author information

1
Memory Unit, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
2
Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
3
IRCCS Mondino Foundation, Pavia, Italy.
4
Centro para la Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
5
Centro para la Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Madrid, Spain.

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.

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.

Conflict of interest statement

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.

Supplemental Content

Full text links

Icon for Public Library of Science Icon for PubMed Central
Loading ...
Support Center