title: 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.
authors: a Department of Pediatrics , Xinqiao Hospital Third Military Medical University , Chongqing City , China.
authors: Wenzao
authors: W
authors: Li
authors: b Department of Biochemistry and Molecular Biology, College of Basic Medical Science , Third Military Medical University , Chongqing City , China.
authors: Peng
authors: P
authors: Zhou
authors: a Department of Pediatrics , Xinqiao Hospital Third Military Medical University , Chongqing City , China.
authors: Congmin
authors: C
authors: Zhao
authors: a Department of Pediatrics , Xinqiao Hospital Third Military Medical University , Chongqing City , China.
authors: Yuping
authors: Y
authors: Zhang
mesh_terms: D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D009154:Mutation; D014402:Tuberous Sclerosis / Q000235:genetics*; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
keywords: TSC2 gene; Tuberous sclerosis complex; mutation; next-generation sequencing