Show Summary Details
Page of

TSC1, TSC2, and Tuberous Sclerosis 

TSC1, TSC2, and Tuberous Sclerosis
TSC1, TSC2, and Tuberous Sclerosis

David J. Kwiatkowski

Page of

PRINTED FROM OXFORD MEDICINE ONLINE ( © Oxford University Press, 2021. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

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.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.