Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy
Por:
Duchateau, L, Martin-Aguilar, L, Lleixa, C, Cortese, A, Dols-Icardo, O, Cervera-Carles, L, Pascual-Goni, E, Diaz-Manera, J, Calegari, I, Franciotta, D, Rojas-Garcia, R, Illa, I, Clarimon, J, Querol, L
Publicada:
22 feb 2019
Resumen:
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.
Filiaciones:
Duchateau, L:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Memory Unit, Barcelona, Spain
Martin-Aguilar, L:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neuromuscular Dis Unit, Barcelona, Spain
Lleixa, C:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neuromuscular Dis Unit, Barcelona, Spain
Cortese, A:
IRCCS Mondino Fdn, Pavia, Italy
Dols-Icardo, O:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Memory Unit, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain
Cervera-Carles, L:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Memory Unit, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain
Pascual-Goni, E:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neuromuscular Dis Unit, Barcelona, Spain
Diaz-Manera, J:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neuromuscular Dis Unit, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain
Calegari, I:
IRCCS Mondino Fdn, Pavia, Italy
Franciotta, D:
IRCCS Mondino Fdn, Pavia, Italy
Rojas-Garcia, R:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neuromuscular Dis Unit, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain
Illa, I:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neuromuscular Dis Unit, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain
Clarimon, J:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Memory Unit, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain
Querol, L:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neuromuscular Dis Unit, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain
Gold, Green Published
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