仅在 TSC 靶向测序的皮质结节中发现 TSC2 镶嵌突变：病例报告及文献复习。
Identification of TSC2 mosaic mutation limited to cortical tuber with TSC targeted sequencing: a case report and literature review.
机构信息
Department of Neurology, Children's Hospital of Fudan University, No.399, Wanyuan Road, Shanghai, 201102, China.
Department of Neurosurgery, Children's Hospital of Fudan University, No.399, Wanyuan Road, Shanghai, 201102, China.
出版信息
Childs Nerv Syst. 2021 Dec;37(12):3945-3949. doi: 10.1007/s00381-021-05059-1. Epub 2021 Jan 30.
BACKGROUND
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder, mainly in childhood presents epilepsy due to cortical tubers. TSC1/TSC2 pathogenic variants cannot be detected in regular molecular genetic testing in around 10-15% of TSC patients.
METHODS
We analyzed TSC genes in both cortical tuber, blood and skin samples from a pediatric patient with refractory epilepsy.
RESULTS
We found no germline mutations by whole-exome sequencing. Well in targeted sequencing of TSC1/2 data, we identified de novo mutations only in cortical tuber: TSC2 NM_000548.5: exon34:c.4183C>T (p.Gln1395*) in 3% of the alleles. No other TSC mutations were found in patient's blood and skin samples and her parents' blood sample.
CONCLUSION
Our case report found TSC2 mosaic mutations can be only limited to cortical tuber in patients with TSC.
背景
结节性硬化症（TSC）是一种常染色体显性遗传疾病，主要在儿童时期因皮质结节而导致癫痫发作。在约 10-15%的 TSC 患者中，常规分子遗传学检测无法检测到 TSC1/TSC2 致病性变异。
方法
我们分析了一名患有难治性癫痫的儿科患者的皮质结节、血液和皮肤样本中的 TSC 基因。
结果
我们通过全外显子组测序未发现种系突变。在 TSC1/2 数据的靶向测序中，我们仅在皮质结节中发现了新生突变：TSC2 NM_000548.5：exon34：c.4183C>T（p.Gln1395*），在 3%的等位基因中。在患者的血液和皮肤样本以及她父母的血液样本中未发现其他 TSC 突变。
结论
我们的病例报告发现 TSC2 镶嵌突变仅局限于 TSC 患者的皮质结节中。
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