结节性硬化症基因型与临床表型的关系

Relationship between genotype and clinical phenotype in tuberous sclerosis complex

目的探讨结节性硬化症(TSC)基因型与临床表型的关系。方法收集临床诊断为TSC的24例患儿的病历资料,完善TSC基因检查,并分析TSC基因型与临床表型的关系。结果24例患儿(100%)均有癫痫发作,23例(95.83%)存在皮肤损害,5例(20.83%)存在心脏横纹肌瘤,3例(12.50%)存在肾脏病变,2例(8.34%)存在视网膜病变,15例(62.50%)存在发育落后。基因检测结果显示,有6例(25.00%)患儿发生TSC1基因突变,17例(70.83%)发生TSC2基因突变,1例(4.17%)基因检测结果阴性。相较于TSC1基因突变组,TSC2基因突变组患儿中癫痫发病年龄<1岁、病变累及2个以上脏器者的比例更高(均P<0.05)。结论在TSC患儿中,TSC2基因突变较TSC1突变更为常见,且TSC2基因突变者癫痫发病年龄更小,更容易累及心脏、肾脏、视网膜等多个脏器。

Objective To investigate the relationship between genotype and clinical phenotype in patients with tuberous sclerosis complex(TSC).Methods The case data of 24 children clinically diagnosed as TSC were collected,TSC genetic testing was performed,and the relationship between genotype and clinical phenotype of TSC was analyzed.Results Among the 24(100%)children who had epileptic seizure,skin damage occurred in 23(95.83%)cases,heart rhabdomyosarcoma in five(20.83%)cases,kidney lesions in three(12.50%)cases,retinopathy in two(8.34%)cases,and developmental retardation in 15(62.5%)cases.The results of genetic testing indicated that six(25.00%)cases sustained TSC1 gene mutation,17(70.83%)cases sustained TSC2 gene mutation,and one(4.17%)case had a negative result of genetic testing.Compared with the TSC1 gene mutation group,children in the TSC2 gene mutation group exhibited higher proportion of cases with the age of epilepsy seizure<one year or with the number of organs which the lesions involved>2(all P>0.05).Conclusion In patients with TSC,TSC2 gene mutation is more common than TSC1 mutation.Furthermore,patients with TSC2 gene mutation have earlier onset of epilepsy and are more likely to involve heart,kidney,retina and other organs.