Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy

PloS One
Lena DuchateauLuis Querol

Abstract

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.

References

Jan 3, 2013·Annals of Neurology·Luis QuerolIsabel Illa
Feb 14, 2015·Journal of Neurology, Neurosurgery, and Psychiatry·Emily K MatheyCindy S-Y Lin
Aug 30, 2016·Annals of Neurology·Dror MevorachAdi Tabib
Dec 18, 2016·Neuromuscular Disorders : NMD·Jean-Michel VallatJérôme J Devaux
Feb 14, 2017·Journal of Child Neurology·Bernard L Maria
Jul 15, 2017·Nature Reviews. Neurology·Luis QuerolIsabel Illa
Nov 18, 2017·Journal of Neuroinflammation·Laura Martinez-MartinezLuis Querol

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Methods Mentioned

BETA
PCR
biopsies

Software Mentioned

Sequencher

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