Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy

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

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© 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.
Idioma originalEnglish
Número d’articlee0212647
RevistaPLoS ONE
Estat de la publicacióPublicada - 1 de febr. 2019

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