Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland.
Institute of Mother and Child, Clinic of Paediatric Neurology, Kasprzaka 17A, 01-211 Warsaw, Poland.
Int J Mol Sci. 2023 Jan 6;24(2):1117. doi: 10.3390/ijms24021117.
Studies conducted on large populations show a lack of connection between vaccination and serious neurological symptoms. However, there are isolated cases that indicate such a relationship. These reports on adverse effects following immunization (AEFI) reduce social confidence in vaccination; however, their background may be rare genetic defects. The aim of the presented study was to examine if neurological AEFI in children may be associated with variants in genes related to neurodevelopment. To identify such possible associations, a descriptive study of the Polish case series was conducted. We performed next-generation sequencing in patients who, up to 4 weeks of injection of any vaccine, manifested neurological AEFI. We included 23 previously normally developing children with first seizures that occurred after vaccination. We identified pathogenic/likely pathogenic variants in genes engaged in neurodevelopment in nine patients and variants of uncertain significance in another nine patients. The mutated genes belonged to the group of genes related to epilepsy syndromes/epileptic encephalopathy. We showed that AEFI might have a genetic background. We hypothesized that in some AEFI patients, the vaccine might only trigger neurological symptoms that would have been manifested anyway as a result of a pathogenic variant in a gene engaged in neurodevelopment.
对大量人群进行的研究表明，接种疫苗与严重的神经症状之间缺乏关联。然而，有一些孤立的病例表明存在这种关系。这些关于接种后不良反应的报告（AEFI）降低了公众对疫苗接种的信心；然而，其背景可能是罕见的遗传缺陷。本研究的目的是检验儿童的神经 AEFI 是否与神经发育相关基因的变异有关。为了确定这种可能的关联，对波兰病例系列进行了描述性研究。我们对在注射任何疫苗后 4 周内出现神经 AEFI 的患者进行了下一代测序。我们纳入了 23 名此前发育正常、在接种疫苗后首次出现癫痫发作的儿童。我们在 9 名患者中发现了与神经发育相关的基因中存在致病性/可能致病性变异，在另外 9 名患者中发现了意义不明的变异。突变基因属于与癫痫综合征/癫痫性脑病相关的基因组。我们表明 AEFI 可能具有遗传背景。我们假设，在某些 AEFI 患者中，疫苗可能只是引发了本来就会因为神经发育相关基因的致病性变异而表现出来的神经症状。
