학술논문
Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy.
Document Type
Article
Author
Source
Subject
*GENETIC mutation
*HEMOLYSIS & hemolysins
*CD59 antigen
*POLYMERASE chain reaction
PERIPHERAL neuropathy diagnosis
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*
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Language
ISSN
1932-6203
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. [ABSTRACT FROM AUTHOR]