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Published on: September 21, 2021
Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy
Lena Duchateau1, Lorena Martín-Aguilar2, Cinta Lleixà2
1Memory Unit, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
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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