Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy

Lena Duchateau; Lorena Martín-Aguilar; Cinta Lleixà; Andrea Cortese; Oriol Dols-Icardo; Laura Cervera-Carles; Elba Pascual-Goñi; Jordi Diaz-Manera; Ilaria Calegari; Diego Franciotta; Ricard Rojas-Garcia; Isabel Illa; Jordi Clarimon; Luis Querol

doi:10.1371/journal.pone.0212647

Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy

Lena Duchateau, Lorena Martín-Aguilar, Cinta Lleixà, Andrea Cortese, Oriol Dols-Icardo, Laura Cervera-Carles, Elba Pascual-Goñi, Jordi Diaz-Manera, Ilaria Calegari, Diego Franciotta, Ricard Rojas-Garcia, Isabel Illa, Jordi Clarimon, Luis Querol

Fondazione "Istituto Neurologico Casimiro Mondino"

Research output: Contribution to journal › Article › peer-review

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	https://doi.org/10.1371/journal.pone.0212647
Publication status	Published - 2019

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Duchateau, L., Martín-Aguilar, L., Lleixà, C., Cortese, A., Dols-Icardo, O., Cervera-Carles, L., Pascual-Goñi, E., Diaz-Manera, J., Calegari, I., Franciotta, D., Rojas-Garcia, R., Illa, I., Clarimon, J., & Querol, L. (2019). Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy. PLoS One, 14(2), e0212647. https://doi.org/10.1371/journal.pone.0212647

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 › peer-review

Duchateau, L, Martín-Aguilar, L, Lleixà, C, Cortese, A, Dols-Icardo, O, Cervera-Carles, L, Pascual-Goñi, E, Diaz-Manera, J, Calegari, I, Franciotta, D, Rojas-Garcia, R, Illa, I, Clarimon, J & Querol, L 2019, 'Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy', PLoS One, vol. 14, no. 2, pp. e0212647. https://doi.org/10.1371/journal.pone.0212647

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. / Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy. In: PLoS One. 2019 ; Vol. 14, No. 2. pp. e0212647.

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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.",

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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.

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DO - 10.1371/journal.pone.0212647

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SN - 1932-6203

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Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy

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