Lin Rui, Zhao Zhenhua, Liu Li'na, Wang Conghui, Chen Chen, Liu Ning, Meng Jingjing, Kong Xiangdong
Center of Genetic and Prenatal Diagnosis, Department of Gynecology and Obstetrics, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 May 10;38(5):435-438. doi: 10.3760/cma.j.cn511374-20200325-00203.
To carry out genetic testing and prenatal diagnosis for 29 Chinese pedigrees affected with tuberous sclerosis complex (TSC) and assess efficacy of combined next generation sequencing (NGS) and multiple ligation-dependent probe amplification (MLPA) for the diagnosis.
NGS and MLPA were used in conjunct to detect variants of TSC1 and TSC2 genes among the probands of the pedigrees. Paternity test was carried out to exclude maternal DNA contamination. Prenatal diagnosis was provided to 14 couples based on the discoveries in the probands.
Twenty-seven variants were identified in the TSC1 and TSC2 genes among the 29 pedigrees, which yielded a detection rate of 93.1%. Respectively, 5 (18.5%) and 22 (81.5%) variants were identified in the TSC1 and TSC2 genes. Twelve variants were unreported previously. Prenatal diagnosis showed that five fetuses were affected with TSC, whilst the remaining nine were unaffected.
Above finding has expanded the spectrum of TSC1 and TSC2 gene variants. Combined NGS and MLPA has enabled diagnosis of TSC with efficiency and accuracy.
对29个中国结节性硬化症（TSC）家系进行基因检测和产前诊断，并评估联合应用二代测序（NGS）和多重连接依赖探针扩增技术（MLPA）的诊断效果。
联合应用NGS和MLPA检测家系先证者中TSC1和TSC2基因的变异。进行亲子鉴定以排除母源DNA污染。根据先证者的检测结果，为14对夫妇提供产前诊断。
在29个家系的TSC1和TSC2基因中鉴定出27个变异，检出率为93.1%。其中，TSC1基因中鉴定出5个（18.5%）变异，TSC2基因中鉴定出22个（81.5%）变异。12个变异此前未被报道。产前诊断显示，5例胎儿患有TSC，其余9例未患病。
上述发现扩展了TSC1和TSC2基因变异谱。联合应用NGS和MLPA能够高效、准确地诊断TSC。
