A novel TSC2 missense variant associated with a variable phenotype of tuberous sclerosis complex: case report of a Chinese family

• DOI: 10.1186/s12881-018-0611-z
• Publication Date: 2018-05-29T21:03:43Z
• Authors: Feng Wang; Shiyi Xiong; Lin Wu; Maya Chopra; Xihong Hu; Bingbing Wu
• Keywords: TSC2; TSC1; Chinese family

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the development of hamartomas in multiple organs, including brain, heart, skin, kidney, lung and retina. A diagnosis TSC established with a recently revised clinical/radiological set criteria and/or causative mutation TSC1 or TSC2 gene.We report Chinese family two siblings presenting hypomelanotic macules, cardiac rhabdomyomas cortical tubers associated small subependymal nodule. The older child had seizures. novel heterozygous missense variant gene (c.899G > T, p.G300 V) was identified shown to be inherited from their father as well paternal grandfather, both whom presented variable TSC-associated signs symptoms.We c.899G T TSC, resulting wide intrafamilial phenotypic variability. Our study illustrates importance clinical evaluation testing for members patient affected TSC.