【摘要】 目的 探讨KCNQ2基因与癫痫的关系及分子亚区对表型异质性的影响。方法 回顾总结人类基因突变数据库(HGMD)、PubMed数据库、中国知网及万方数据库已经报道的KCNQ2基因突变类型及临床表型，分析基因型-表型相关性及分子亚区对临床表型的影响。结果 KCNQ2基因突变所引起的疾病中癫痫相关的突变占96.46%;错义突变中癫痫重表型发生率较高，而无效突变中癫痫轻表型发生率较高(P<0.05);错义突变中，位于孔区的突变出现癫痫重表型的概率较高，而在N/C末端更容易出现癫痫轻表型(P<0.05)。结论 KCNQ2突变引起的多为癫痫相关的疾病，其中错义突变更容易引起癫痫重表型，位于孔区的突变最为显著，而位于N/C末端的突变更容易出现癫痫轻表型。更多还原

【Abstract】 Objective To investigate the relationship between KCNQ2 gene and epilepsy and the influence of molecular subregions on phenotypic heterogeneity.Methods The mutation types and clinical phenotypes of KCNQ2 gene reported in the Human Gene Mutation Database(HGMD), PubMed database, CNKI and Wanfang Database were reviewed and summarized. The genotype-phenotype correlation and the influence of molecular subregions on the clinical phenotypes were analyzed.Results Among the diseases caused by KCNQ2 mutations, the epilepsy related mutations accounted for 96.46%. The incidence of epilepsy severe phenotype was higher in missense mutations, while the incidence of epileptic mild phenotype was higher in null mutation(P<0.05). In the missense mutations, the mutation in the pore region had a higher probability of severe epilepsy phenotype, while the mutation in the N/C terminal was more likely to have a mild epilepsy phenotype(P<0.05).Conclusion KCNQ2 mutation is mainly associated with epilepsy, among which the missense mutation is more likely to cause severe epilepsy phenotype, and the mutation located in the pore region is the most significant, while the mutation located in the N/C terminal is more likely to cause mild epilepsy phenotype.更多还原