Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy.
Journal
PloS one
ISSN: 1932-6203
Titre abrégé: PLoS One
Pays: United States
ID NLM: 101285081
Informations de publication
Date de publication:
2019
2019
Historique:
received:
05
11
2018
accepted:
06
02
2019
entrez:
23
2
2019
pubmed:
23
2
2019
medline:
22
11
2019
Statut:
epublish
Résumé
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. 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. 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. Our pilot study suggests that mutations in CD59 are absent in adult-onset sporadic CIDP.
Identifiants
pubmed: 30794663
doi: 10.1371/journal.pone.0212647
pii: PONE-D-18-31831
pmc: PMC6386293
doi:
Substances chimiques
CD59 Antigens
0
CD59 protein, human
101754-01-2
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e0212647Commentaires et corrections
Type : ErratumIn
Déclaration de conflit d'intérêts
LQ has provided expert testimony for Grifols, Genzyme and CSL Behring, received speaking honoraria from Biogen Spain and Roche and received research funds from Grifols (Spin Award) and LFB. This does not alter the authors' adherence to PLOS ONE policies on sharing data and materials.
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