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TSC1, TSC2, and Tuberous Sclerosis 

TSC1, TSC2, and Tuberous Sclerosis
Chapter:
TSC1, TSC2, and Tuberous Sclerosis
Author(s):

David J. Kwiatkowski

DOI:
10.1093/med/9780199934522.003.0078
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date: 27 February 2021

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of hamartomas and hamartias in multiple organs. It is due to inactivating mutations in either TSC1 or TSC2. TSC tumors follow the first germline hit–second somatic hit tumor suppressor gene paradigm. The TSC1 and TSC2 proteins form a complex, which functions as a GAP for Rheb, which regulates the activity of mammalian target of rapamycin kinase complex 1 (mTORC1). Clinically, the TSC phenotype is highly variable. Brain involvement causes epilepsy, and several behavioral disorders including autism at high frequency. Other clinical features are several types of skin lesions, subependymal giant cell astrocytoma, renal angiomyolipomas, cardiac rhabdomyomas, and pulmonary lymphangioleiomyomatosis. Sporadic cases are common due to new mutations, and many different mutations have been found in each gene. Recent major progress has been the use of rapamycin and analogues for management of multiple tumors in TSC.

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