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:10.1371/journal.pone.0212647

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.

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Titolo:	Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy
Autori:	Duchateau L. Martin-Aguilar L. Lleixa C. CORTESE, ANDREA Dols-Icardo O. Cervera-Carles L. Pascual-Goni E. Diaz-Manera J. Calegari I. FRANCIOTTA, DIEGO Rojas-Garcia R. Illa I. Clarimon J. Querol L. mostra contributor esterni nascondi contributor esterni
Data di pubblicazione:	2019
Rivista:	PLOS ONE
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.
Handle:	http://hdl.handle.net/11571/1349917
Appare nelle tipologie:	1.1 Articolo in rivista

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