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Review
. 2020 Oct;36(10):2489-2496.
doi: 10.1007/s00381-020-04726-z. Epub 2020 Aug 6.

Genetics of tuberous sclerosis complex: an update

Daphna Marom  1   2
Affiliations
Review

Genetics of tuberous sclerosis complex: an update

Daphna Marom. Childs Nerv Syst. 2020 Oct.

Abstract

Purpose: To review the current genetic aspects of tuberous sclerosis complex.

Methods: Review of the literature.

Results: Tuberous sclerosis complex (TSC), a long known childhood-onset monogenic disorder, characterized by hamartoma formation affecting mainly the brain, heart, kidney, lung, and skin, is associated with a high morbidity burden and risk of a reduced life span. The identification of TSC1 and TSC2, as tumor suppressor genes causative of the disorder, led to the elucidation of the mammalian target of rapamycin complex 1 (mTORC1) signaling pathway and its pivotal role in the pathogenesis of hamartoma formation. This knowledge was translated into standard clinical practice with the discovery of rapamycin, and additional analogues, as inhibitors of mTORC1.

Conclusion: Next-generation sequencing was proven to be fundamental to drive research of tumorigenesis in TSC, hopefully leading to new therapeutic options in the future.

Keywords: Hamartoma; TSC1; TSC2; mTOR pathway.

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References

    1. Peron A, Sing KA, Northrup H (2018) Genetics, genomics, and genotype–phenotype correlations of TSC: insights for clinical practice. Am J Med Genet 178C:281–290 - DOI
    1. Brigo F, Lattanzi S, Trink E, Nardone R, Bragazzi NL, Ruggieri M, Martiniand M, Walusinski O (2018) First descriptions of tuberous sclerosis by Désiré-Magloire Bourneville (1840–1909). Neuropathology 38:577–582 - DOI
    1. Northrup H, Krueger DA, on behalf of the international tuberous sclerosis complex consensus group (2013) Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 49:243–254 - DOI
    1. Roach ES, Gomez MR, Northrup H (1998) Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 13:624–628 - DOI
    1. Krueger DA, Northrup H on behalf of the international tuberous sclerosis complex consensus group (2013) Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 49:255–265 - DOI

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