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Clinical manifestations of tuberous sclerosis complex [Eastern J Med]
Eastern J Med. 2013; 18(2): 52-57

Clinical manifestations of tuberous sclerosis complex

Ahmet Engin Atay1, Halit Akbas2, Nafi Sakar3, Semir Pasa4, Seyhmus Ari5, Nazim Ekin6
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Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome or in sporadic form characterized by hamartamatous lesions in multiple organs. It affects several sites such as skin, kidney, lung, heart, central nervous system and liver in diferent stages of disease. TSC is caused by mutations on either chromosome 9 (9q34, the TSC1 gene) or chromosome 16 (16p13, TSC2 gene). TSC1 and TSC2 genes encode proteins called tuberin and hamartin; respectively. Although the pathogenetic mechanism is exactly unknown, a possible mechanism is a GTPase-activating protein against Rheb (Ras homolog enriched in brain), which regulates mTOR (mammalian target of rapamycin) signaling. The mammalian target of rapamycin (mTOR), is a serine-threonine kinase that increases cell proliferation and growth. We aimed to review the clinical manifestations and their predictive role on the course of disease.

Keywords: Tuberous Sclerosis, autosomal dominant


Ahmet Engin Atay, Halit Akbas, Nafi Sakar, Semir Pasa, Seyhmus Ari, Nazim Ekin. Clinical manifestations of tuberous sclerosis complex. Eastern J Med. 2013; 18(2): 52-57


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