10 doctors weighed in:

What causes tuberous sclerosis?

10 doctors weighed in
Dr. Ed Friedlander
Pathology
5 doctors agree

In brief: Genetic mutations

These people have a genetic mutation at one of two loci TSC1 or TSC2 (hamartin and tuberin).
A second mutation in a particular cell results in creation of a tumor. No two TS patients are alike and the severity of the illness varies tremendously. It's not curable, but it's often manageable. Best wishes.

In brief: Genetic mutations

These people have a genetic mutation at one of two loci TSC1 or TSC2 (hamartin and tuberin).
A second mutation in a particular cell results in creation of a tumor. No two TS patients are alike and the severity of the illness varies tremendously. It's not curable, but it's often manageable. Best wishes.
Dr. Ed Friedlander
Dr. Ed Friedlander
Thank
Dr. James Ferguson
Pediatrics
4 doctors agree

In brief: Gene mutation

Ts is caused by a gene mutation.
You can acquire it from a parent or get it as a new mutation, but the mutation effects every cell in the body. It can be very mild. I knew a college grad who adopted rather than risk passing it & she just had a bit of skin findings. I have treated many who had the soft tumors come up in the brain, kidneys etc. With many pbs.

In brief: Gene mutation

Ts is caused by a gene mutation.
You can acquire it from a parent or get it as a new mutation, but the mutation effects every cell in the body. It can be very mild. I knew a college grad who adopted rather than risk passing it & she just had a bit of skin findings. I have treated many who had the soft tumors come up in the brain, kidneys etc. With many pbs.
Dr. James Ferguson
Dr. James Ferguson
Thank
Dr. Johanna Fricke
Pediatrics - Developmental & Behavioral

In brief: Genetic mutations

Tuberous sclerosis complex is caused by mutations in the ts1 gene on chromosome 16 and the ts2 gene on chrosome 9.
Only one of these has to be affected to have symptoms. Symptoms and their severity vary, even within a family. If a parent has tsc, each of his childen has a 50% chance of having it. Spontaneous mutations also occur. See http://www.Tsalliance.Org for comprehensive information.

In brief: Genetic mutations

Tuberous sclerosis complex is caused by mutations in the ts1 gene on chromosome 16 and the ts2 gene on chrosome 9.
Only one of these has to be affected to have symptoms. Symptoms and their severity vary, even within a family. If a parent has tsc, each of his childen has a 50% chance of having it. Spontaneous mutations also occur. See http://www.Tsalliance.Org for comprehensive information.
Dr. Johanna Fricke
Dr. Johanna Fricke
Thank
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