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Tuberous sclerosis is caused by an altered gene. The faulty gene causes abnormal development of some cells in the body. The name tuberous sclerosis comes from tuber-like growths in the brain, which, with age, calcify and become hard or sclerotic.
Tuberous sclerosis is an hereditary disease carried by a dominant gene. It is estimated that tuberous sclerosis occurs as a spontaneous mutation in 80 per cent of cases. In this situation, neither parent has tuberous sclerosis. Where one parent has tuberous sclerosis there is a 1:2 chance that each child will also have the disease.
In 1987 a gene locus was discovered on chromosome 9 and in 1992 a second locus was found on chromosome 16. This gene was isolated in 1993.
In 1997 the gene TSC1 on chromosome 9 was located, with possible leads to blood testing in the future.
Many tuberous sclerosis sufferers exhibit extreme renal problems and this serious complication is being actively researched.
