A novel de novo mutation in the TSC2 gene in a Chinese patient with tuberous sclerosis complex

作者：Li, Wenzao; Zhou, Peng; Zhao, Congmin; Zhang, Yuping^*

来源：Journal of Neurogenetics, 2016, 30(3-4): 285-287.

DOI：10.1080/01677063.2016.1242585

• Tuberous sclerosis complex
• mutation
• TSC2 gene
• next-generation sequencing

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.

• 出版日期2016
• 单位中国人民解放军陆军军医大学; 新桥医院