目的　探讨结节性硬化症TSC1和TSC2基因型与临床表型相关性。方法　对2016年8月至2017年8月就诊 的30例临床诊断为结节性硬化症的患儿行TSC1、TSC2基因分析，并进行基因型-表型关系分析。结果　30例患儿中，男 22例、女8例，中位年龄6.45岁。 5例发现TSC1基因突变、22例发现TSC2基因突变，突变率90%。TSC1和TSC2基因突变 类型有5种，错义突变、无义突变、大片段缺失、移码突变和剪切突变，以无义突变、剪切突变和移码突变的发生率最高。 其中TSC1基因仅发现剪切突变和移码突变；TSC2基因上述5种突变均有发现。共发现12种结节性硬化症的临床表型，其 中以面部血管纤维瘤、癫痫和智力低下的发生率最高。癫痫发生在TSC2和TSC1基因型之间的差异有统计学意义（P<0.05）。 结论　结节性硬化症临床表型和突变类型较多，TSC2基因突变频率大于TSC1基因，TSC2基因突变更易引发严重的结节 性硬化症的临床表现。

Objective　To explore the correlation of TSC1 and TSC2 genotype with clinical phenotype in tuberous sclerosis. Method　The TSC1 and TSC2 gene analysis were performed in 30 children from August 2016 to August 2017, and the relationship between genotype and phenotype was analyzed. Results　In 30 children with tuberous sclerosis (22 males and 8 females) with a median age at 6.45 years, TSC1 gene mutation was found in 5 cases, and TSC2 gene mutation in 22 cases. A mutation rate was 90%. There were 5 types of mutations in TSC1 and TSC2 genes including missense mutation, nonsense mutation, large fragment deletion, frameshift mutation and shear mutation, and the incidence rates of nonsense mutations, shear mutations and transcoding mutations were the highest. Only shear mutation and frameshift mutation were found in TSC1 gene. All the above 5 mutations were found in TSC2 gene. A total of 12 clinical phenotypes of tuberous sclerosis were found and the facial angiofibroma, epilepsy and mental retardation had highest incidence. There was statistical difference in the incidence of epilepsy between the TSC2 and TSC1 genotypes (P<0.05). Conclusions　There are many clinical phenotypes and mutation types in tuberous sclerosis. The mutation frequency of TSC2 gene is higher than that of TSC1 gene, and the mutation of TSC2 gene is more likely to cause severe clinical manifestations of tuberous sclerosis.