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.
Scheda prodotto non validato
Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo
Titolo: | Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy |
Autori: | |
Data di pubblicazione: | 2019 |
Rivista: | |
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 |