一例结节性硬化症家系的TSC基因变异分析及产前诊断

Genetic testing and prenatal diagnosis for a pedigree affected with tuberous sclerosis complex

目的分析1个结节性硬化症(tuberous sclerosis complex,TSC)家系TSC1和TSC2基因变异位点并进行产前诊断。方法应用Sanger测序法分别对先证者及其家庭成员进行TSC1和TSC2基因变异检测分析。结果家系先证者TSC1基因检测未见异常,TSC2基因内含子24中存在1处剪切供位变异位点(c.2837+1dupG),变异位点位于外显子与内含子连接处,家系其他成员及产前诊断胎儿的TSC1和TSC2基因未检测出变异。结论TSC2基因c.2837+1dupG剪切供位变异可能是该结节性硬化症病例的致病原因,应用基因测序方法有助于丰富该疾病致病基因的变异谱。

Objective To explore the genetic basis for Chinese pedigree affected with tuberous sclerosis complex(TSC).Methods The proband and his family members were subjected to Sanger sequencing for variants of the TSC1 and TSC2 genes.Results The proband was found to harbor a c.2837+1dupG splicing variant at a donor site of the TSC2 gene.The same variant was not found among his family members and a fetus during his mother’s subsequent pregnancy.Conclusion The c.2837+1dupG splicing variant of the TSC2 gene has probably predisposed to the TSC in this pedigree.Above finding has enriched the spectrum of pathogenic variants associated with this disease.