摘要
Tuberous sclerosis complex （TSC） is an autosomal dominant neurocutaneous disorder characterized by the presence of multiple hamartomas in almost every organ, most notably in the skin, brain, heart, kidneys, liver, and lungs [1]. The classic syndromes of TSC are seizures, mental retardation, and cutaneous angiofibromas [1 ]. Two tumor suppressor genes, Tscl and Tsc2, have been identified for pathogenesis of TSC [2]. Tscl is located on chromosome 9q34 and encodes for the protein hamartin （130 kDa）. Tsc2 is located on chromosome 16pl 3.3 and encodes for the protein tuberin （180 kDa）. These two proteins form a tumor suppressor heterodimer and inhibit the function of mammalian target of rapamycin （mTOR） [2].
有块茎的硬化建筑群(TSC ) 是多重 hamartomas 的存在描绘在的正染色体的主导的 neurocutaneous 混乱几乎每个机关，尤其是在皮肤的大多数，大脑，心，肾，肝，和肺。TSC 的经典症候群是发作，智力迟钝，和皮肤的 angiofibromas。二个肿瘤压制或基因， Tsc1 和 Tsc2，为 TSC 的致病被识别了。Tscl 位于染色体 9q34 并且为蛋白质编码哈燕子(130 kDa ) 。Tsc2 位于染色体 16pl3.3 并且为蛋白质 tuber 编码为(180 kDa ) 。
