Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy

PLoS One. 2019 Feb 22;14(2):e0212647. doi: 10.1371/journal.pone.0212647. eCollection 2019.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • CD59 Antigens / genetics*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Pilot Projects
  • Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / genetics*

Substances

  • CD59 Antigens
  • CD59 protein, human

Grant support

This project was supported by Fondo de Investigaciones Sanitarias (FIS), Instituto de Salud Carlos III, Spain and FEDER under grant FIS16/00627, and a personal grant to LQ SLT006/17/00131 of the Pla Estratègic de Recerca i Innovació en Salut (PERIS) 2016-2020 of the Departament de Salut of the Generalitat de Catalunya, pricipal investigator LQ.