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.
| Original language | English |
|---|---|
| Pages (from-to) | e0212647 |
| Journal | PLoS One |
| Volume | 14 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 2019 |
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Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy. / Duchateau, Lena; Martín-Aguilar, Lorena; Lleixà, Cinta; Cortese, Andrea; Dols-Icardo, Oriol; Cervera-Carles, Laura; Pascual-Goñi, Elba; Diaz-Manera, Jordi; Calegari, Ilaria; Franciotta, Diego; Rojas-Garcia, Ricard; Illa, Isabel; Clarimon, Jordi; Querol, Luis.
In: PLoS One, Vol. 14, No. 2, 2019, p. e0212647.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy
AU - Duchateau, Lena
AU - Martín-Aguilar, Lorena
AU - Lleixà, Cinta
AU - Cortese, Andrea
AU - Dols-Icardo, Oriol
AU - Cervera-Carles, Laura
AU - Pascual-Goñi, Elba
AU - Diaz-Manera, Jordi
AU - Calegari, Ilaria
AU - Franciotta, Diego
AU - Rojas-Garcia, Ricard
AU - Illa, Isabel
AU - Clarimon, Jordi
AU - Querol, Luis
PY - 2019
Y1 - 2019
N2 - 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.
AB - 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.
U2 - 10.1371/journal.pone.0212647
DO - 10.1371/journal.pone.0212647
M3 - Article
C2 - 30794663
VL - 14
SP - e0212647
JO - PLoS One
JF - PLoS One
SN - 1932-6203
IS - 2
ER -