DOI: 10.1101/459917Nov 4, 2018Paper

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

BioRxiv : the Preprint Server for Biology
Lena DuchateauLuis Querol

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.

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