Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy
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 includ...
| Autores: | , , , , , , , , , , , , , |
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| Tipo de recurso: | artículo |
| Fecha de publicación: | 2019 |
| País: | España |
| Institución: | Universitat Autònoma de Barcelona |
| Repositorio: | Dipòsit Digital de Documents de la UAB |
| Idioma: | inglés |
| OAI Identifier: | oai:ddd.uab.cat:222665 |
| Acceso en línea: | https://ddd.uab.cat/record/222665 https://dx.doi.org/urn:doi:10.1371/journal.pone.0212647 |
| Access Level: | acceso abierto |
| Palabra clave: | CD59 Antigens Female Humans Male Middle Aged Mutation Pilot Projects Polyradiculoneuropathy, Chronic Inflammatory Demyelinating |
| Sumario: | 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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