(TSC1) Tuberous Sclerosis Type 1
• Cell line states: affected (N/IVS7+1 G?A)
• Defects in TSC1 are the cause of tuberous sclerosis complex (TSC). The molecular basis of TSC is a functional impairment of the hamartin-tuberin complex. TSC is an autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. TSC is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical symptoms can range from benign hypopigmented macules of the skin to profound mental retardation with intractable seizures to premature death from a variety of disease-associated causes.