Tuberous Sclerosis : Causes
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Causes could include:
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Tuberous sclerosis is inherited as an autosomal dominant trait (only one parent must pass on the bad gene for the child to get the disease. However, a high percentage of cases are due to new mutations (which occur in the sperm or egg of one of the...
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TSC is an autosomal dominant genetic disorder caused by a single change or alteration in a gene called a mutation in either the TSC1 gene, located on chromosome 9, or the TSC2 gene, located on chromosome 16. Approximately two-thirds (66%) of patie...
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TSC is an autosomal dominant genetic disorder caused by a single change or alteration in a gene called a mutation in either the TSC1 gene, located on chromosome 9, or the TSC2 gene, located on chromosome 16. Approximately two-thirds (66%) of patie...
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Up until the discovery of TSC1 and TSC2, the diagnosis of TS was made on a clinical basis. Criteria for clinical diagnosis were updated in 1998 at the Tuberous Sclerosis Complex Consensus Conference.
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Tuberous sclerosis occurs when at least one of two genes (either TSC-1 on chromosome 9 or TSC-2 on chromosome 16) is defective. Normally, the two genes produce proteins called hamartin and tuberin, respectively. These proteins seem to serve as inh...
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In a strict sense, mutations are changes in genes not caused by genetic recombination. A change in the base sequence of DNA , for example, represents a mutational change.
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