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Is Tuberous Sclerosis Complex Genetic?
- Heritability
- ~100%
- Inheritance
- autosomal-dominant
- Key genes
- TSC1 TSC2
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Causes benign tumours in multiple organs (brain kidney lung skin) due to TSC1 or TSC2 mutations. ~65% of cases are de novo.
How Genetic Is Tuberous Sclerosis Complex?
Tuberous Sclerosis Complex has a strong genetic basis. Research estimates heritability at approximately 100%, meaning genetic factors account for the majority of variation in whether individuals develop this condition.
Key genes associated with Tuberous Sclerosis Complex: TSC1 TSC2. Variants in these genes have been identified through genome-wide association studies (GWAS) and clinical research as influencing susceptibility or severity.
Source: MedlinePlus Genetics
Does Family History Matter for Tuberous Sclerosis Complex?
Yes — family history is one of the strongest predictors of Tuberous Sclerosis Complex. If a first-degree relative (parent, sibling, or child) has been diagnosed, your own risk may be significantly elevated. Discussing your family history with a healthcare provider or genetic counsellor is strongly recommended.
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