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

Duchateau, L.; Martin-Aguilar, L.; Lleixa, C.; Cortese, A.; Dols-Icardo, O.; Cervera-Carles, L.; Pascual-Goni, E.; Diaz-Manera, J.; Calegari, I.; Franciotta, D.; Rojas-Garcia, R.; Illa, I.; Clarimon, J.; Querol, L.

doi:10.1101/459917

bioRxiv · 10.1101/459917

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

Duchateau, L.·Martin-Aguilar, L.·Lleixa, C.·Cortese, A.·Dols-Icardo, O.·Cervera-Carles, L.·Pascual-Goni, E.·Diaz-Manera, J.·Calegari, I.·Franciotta, D.·Rojas-Garcia, R.·Illa, I.·Clarimon, J.·Querol, L.

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Abstract

ObjectiveMutations 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.\n\nMethods5 patients from two centers, fulfilling the EFNS/PNS diagnostic criteria for CIDP were included. CD59 coding region was amplified by PCR and Sanger sequenced.\n\nResultsOne 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.\n\nInterpretationOur pilot study suggests that mutations in CD59 are absent in adult-onset sporadic CIDP.

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Duchateau, L., Martin-Aguilar, L., Lleixa, C., Cortese, A., Dols-Icardo, O., Cervera-Carles, L., Pascual-Goni, E., Diaz-Manera, J., Calegari, I., Franciotta, D., Rojas-Garcia, R., Illa, I., Clarimon, J., Querol, L.. 2018-11-04. Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy.. https://doi.org/10.1101/459917

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