Novel nonsense mutation of the TSC2 gene in a case of tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is an autosomal dominant neural-skin syndrome affecting 1 in every 6,000-10,000 individuals [1]. TSC is characterized by hamartomas in the affected organs. Facial angiofibromas, seizures and mental retardation are the three common clinical manifestations of TSC. Patients may also present shagreen patches, periungual fibromas, hypopigmented macules, neurofibromas, cortical tubers, autism, cysts and angiomyolipomas in the kidneys, cardiac rhabdomyomas, gastrointestinal [...]