| 摘要: |
| 目的：探讨CSNK2B基因突变的临床表型及遗传学特点。方法：收集1例CSNK2B基因剪切突变致婴儿期全面性癫痫伴精神运动发育落后患儿的临床和遗传学资料，通过1000基因组数据库、美国国家心肺血液研究外显子组测序数据库（ESP6500SI）、外显子组整合数据库（ExAC）、基因组突变频率数据库（GnomAD）及PubMed等检索CSNK2B基因突变相关的临床表型和突变位点。结果：本例患儿为CSNK2B基因剪切位点的杂合新生突变，基因位点c.557+1(IVS6)G>A，该突变国内外均未见报道。CSNK2B基因临床表现为婴儿期起病，全面强直阵挛发作，精神运动发育落后，视频脑电图及颅脑磁共振正常，癫痫发作易控制。结论：CSNK2B基因突变可能导致癫痫发作和精神运动发育落后，基因检测有利于确定病因 |
| 关键词: CSNK2B基因 剪切位点突变 癫痫 智力落后 |
| DOI： |
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| Infantile Generalized Epilepsy Complicated with Psychomotor Retardation Induced by CSNK2B Gene Mutation: A Case Study and Literature Review |
| Gao Jia1,2, Jiang Tiejia2, Pan Xiaoming1, Gao Feng2 |
| ((1. Hangzhou Dajiangdong Hospital, Zhejiang Hangzhou 310000, China; 2. The Children’s Hospital, Zhejiang University School of Medicine, Zhejiang Hangzhou 310000, China)) |
| Abstract: |
| Objective: To probe into the clinical phenotype and genetic characteristics of CSNK2B gene mutation. Methods: Clinical and genetic data of one case with infantile generalized epilepsy complicated with psychomotor retardation induced by CSNK2B gene mutation were collected. Clinical phenotype and mutation sites related to CSNK2B gene mutation were retrieved through 1000 Genome Project, ESP6500SI, the Exome Aggregation Consortium (ExAC), Genome Aggregation Database (GnomAD) and PubMed. Results: This thesis reported a case of heterozygous de nove mutation in CSNK2B gene, with locus c.557+1(IVS6)G >A, which had not been reported at home and abroad. CSNK2B gene clinically presented with infantile onset, generalized tonic clonic seizure, psychomotor retardation, normal video EEG and magnetic resonance imaging, and easily controlled epilepsy. Conclusion: CSNK2B gene mutation may lead to etiology and psychomotor retardation, and gene detection is helpful for patients to determine the etiology. |
| Key words: CSNK2B gene splice site mutation epilepsy psychomotor retardation |
