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

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.

SUBMITTER: Duchateau L 

PROVIDER: S-EPMC6386293 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature