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.
Services offered by the Institute for TSC
- SPECIALISTS ADVICES
- INFORMATION AND SUPPORT FOR PATIENTS AND THEIR RELATIVES THANK TO THE TSC ASSOCIATION (TUBEROUS SCLEROSIS VOLUNTEERS GROUP)
- GENETIC DIAGNOSIS
- BIOMOLECULAR AND CELLULAR RESEARCH
Help us support research by donating 5 per thousand or through a donation to:
Banca di Verona e Vicenza
Iban code: IT 70Q 08807 11800 000000070000
Swift/Bic code: ICRAITRRBSG
Reason: Contributo per Ricerca Tuberous Sclerosis
For further informations
Phone +39 0444 555557 e +39 0444 555034