Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy.
oleh: 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
| Format: | Article |
|---|---|
| Diterbitkan: | Public Library of Science (PLoS) 2019-01-01 |
Deskripsi
<h4>Objective</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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.<h4>Interpretation</h4>Our pilot study suggests that mutations in CD59 are absent in adult-onset sporadic CIDP.