Type of inheritance in Tuberous sclerosis
Tuberous sclerosis complex (TSC) is a rare multisystem genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, hea, liver, eyes, lungs, and skin. A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, and lung and kidney disease. TSC is caused by a mutation of either of two genes, TSC1 and TSC2, which code for the proteins hamain and tuberin, respectively. These proteins act as tumor growth suppressors, agents that regulate cell proliferation and differentiationTSC is a genetic disorder with an autosomal dominant pattern of inheritance, variable expressivity, and complete penetrance. Two-thirds of TSC cases result from sporadic genetic mutations, not inheritance, but their offspring may inherit it from them. Current genetic tests have difficulty locating the mutation in roughly 20% of individuals diagnosed with the disease. So far, it has been mapped to two genetic loci, TSC1 and TSC2.
Autosomal dominant
Autosomal recessive
X-linked dominant
X-linked recessive
General pathology