1. Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy.
- Author
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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, and Querol, Luis
- Subjects
PERIPHERAL neuropathy diagnosis ,GENETIC mutation ,HEMOLYSIS & hemolysins ,CD59 antigen ,POLYMERASE chain reaction - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2019
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