Li Wenzao, Zhou Peng, Zhao Congmin, Zhang Yuping
a Department of Pediatrics , Xinqiao Hospital Third Military Medical University , Chongqing City , China.
b Department of Biochemistry and Molecular Biology, College of Basic Medical Science , Third Military Medical University , Chongqing City , China.
J Neurogenet. 2016 Sep-Dec;30(3-4):285-287. doi: 10.1080/01677063.2016.1242585. Epub 2016 Oct 25.
Tuberous sclerosis complex (TSC), a multisystem genetic syndrome, often affects the central nervous system. The age of onset of TSC ranges from 0 to 15 years. The clinical features manifest as a combination of seizures, mental retardation, facial angiofibroma, renal angiomyolipoma, and cardiac rhabdomyoma. Most cases of TSC are caused by mutations of the TSC1 or TSC2 genes. We characterized a Chinese patient with a novel de novo mutation in the TSC2 gene associated with the TSC detected by next-generation sequencing.
结节性硬化症（TSC）是一种多系统遗传综合征，常累及中枢神经系统。TSC的发病年龄在0至15岁之间。其临床特征表现为癫痫发作、智力发育迟缓、面部血管纤维瘤、肾血管平滑肌脂肪瘤和心脏横纹肌瘤。大多数TSC病例是由TSC1或TSC2基因突变引起的。我们通过新一代测序鉴定了一名中国患者，其TSC2基因存在一种与TSC相关的新的从头突变。
