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.
U2 - https://doi.org/10.1371/journal.pone.0212647
DO - https://doi.org/10.1371/journal.pone.0212647
M3 - Article
C2 - 30794663
VL - 14
M1 - e0212647
ER -