慢性炎性脱髓鞘性多发性神经根神经病中 CD59 无致病性突变。
Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy.
机构信息
Memory Unit, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
出版信息
PLoS One. 2019 Feb 22;14(2):e0212647. doi: 10.1371/journal.pone.0212647. eCollection 2019.
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.
目的
CD59 突变导致遗传性慢性溶血性疾病患儿出现 CIDP 样多发性神经病。我们假设 CD59 突变可能存在于一部分散发性 CIDP 患者中。
方法
我们纳入了来自两个中心的 35 名符合 EFNS/PNS CIDP 诊断标准的患者。通过 PCR 扩增 CD59 编码区并进行 Sanger 测序。
结果
在一名患者中发现了一种罕见的变异，该变异导致同义改变，预测为中性。我们的队列中没有致病性变异。
解释
我们的初步研究表明，成年起病的散发性 CIDP 患者中不存在 CD59 突变。
Zotero 插件