TUBEROUS SCLEROSIS IS ALSO GETTING MUCH MORE FREQUENT ALONG WITH ALL THE OTHER PATERNAL AGE DERIVED DE NOVO GENETIC DISORDERS
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 parents), so there usually is no family history of the disease.
Tuberous sclerosis (TSC) is a rare, multi-system genetic disease that causes benign tumours to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, developmental delay, behavioural problems, skin abnormalities, lung and kidney disease. TSC is caused by mutations on either of two genes, TSC1 and TSC2, which encode for the proteins hamartin and tuberin respectively.
Tuberous sclerosis is a genetic disorder with an autosomal dominant pattern of inheritance, and penetrance is 100%. The disease has been mapped to two genetic loci, TSC1 and TSC2. Current genetic tests have difficulty locating the mutation in approximately 20% of individuals diagnosed with the disease. Two thirds of cases are sporadic mutations.
The prevalence figures have steadily increased from 1:150,000 in 1956, to 1:100,000 in 1968, to 1:70,000 in 1971, to 1:34,200 in 1984, to the present figure of 1:12,500 in 1998. Whilst still regarded as a rare disease, it is common when compared to many other genetic diseases.[5][18] In the US: Birth incidence is 1 case per 6,000 population, with a prevalence of 1 case per 10,000 population.
Factors that hamper accurate assessment of incidence and prevalence include underrecognition of less severe phenotypes, high spontaneous mutation rate (approximately two thirds), marked variability of symptoms (even within specific kindreds of affected individuals), and reluctance of asymptomatic parents and relatives to undergo diagnostic testing related to concerns of uninsurability and social stigma.
Internationally: As in the United States
[edit] History
1 Comments:
I find this very interesting. Last month my younger sister died and unfortunately they could not determine what the actual cause was but she had tuberous sclerosis. She was diagnosed when she was very young. She basically had all the symptoms you can get. She had already lost a kidney. She was 42. Here in New Zealand we have very little information locally and even when my sister lost her kidney we had to have it sent to the USA for analysis. We never realised that it was as prevalent as your figures state.
Thank you for the information
Post a Comment
<< Home