Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy

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. 35 patients from two centers, fulfilling the EFNS/PNS diagnostic criteria for CIDP were included. CD59 coding re...

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Veröffentlicht in:PloS one 2019-02, Vol.14 (2), p.e0212647-e0212647
Hauptverfasser: 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, Querol, Luis
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Sprache:eng
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Zusammenfassung: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. 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. 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. Our pilot study suggests that mutations in CD59 are absent in adult-onset sporadic CIDP.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0212647