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

Abstract

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.

Keywords:

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

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.