Tuberous Sclerosis is an hereditary autosomal dominant disease with a prevalence of 1/10.000 born. The TSC is due to a defect in TSC2 gene (Tuberous Sclerosis Complex 2, located in p13.3 region of the chromosome 16) or in TSC1 gene (Tuberous Sclerosis Complex 1, located in q34 region of the chromosome 9). These genes are tumor suppressor genes and they encode respectively the Tuberin and the Amartina protein.
Over half of the cases are sporadic (de novo mutations). The penetrance reaches 95% and expression varies widely even within the same family. In adulthood, 95% of patients present different features: facial angiofibromas, Koenen tumors, fibrous plaques on the forehead and scalp, renal angiomyolipomas, subependymal nodules or multiple cortical tuber, retinal hamartomas. The symptoms can be very mild during childhood. Epilepsy, often generalized, is common ( 60% of cases ) and it is difficult to control. Mental retardation is present in over 50% of cases. An accurate diagnosis is essential to recognize and treat the symptomatic lesions (neurologic, renal, cardiac and pulmonary injuries), since they are the main causes of death in patients. Genetic counselling is difficult because of the great variability of phenotypes. About two-thirds of the mutations, occurred in patients, were found in TSC2 and the spectrum is very heterogeneous: includes truncating mutations (nonsense, IVS, frameshift), missense, large deletions and complex chromosomal rearrangements.
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Fondazione Malattie Rare “Mauro Baschirotto” Onlus
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