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Many studies have reported that the phenotype of tuberous sclerosis-2 (TSC2) is more severe than that of tuberous sclerosis-1 (e.g., lower IQ, more seizures, more macules, cust-like cortical tubers) [MISCELLANEOUS] One-third of cases are familial [MISCELLANEOUS] Prevalence of 1 in 6,000 to 1 in 10,000 [MISCELLANEOUS] Frequent new mutations (~60%) and/or gonadal mosaicism in TSC2 [MISCELLANEOUS] Genetic heterogeneity (see 191100) [MISCELLANEOUS] Highly variable phenotype [MISCELLANEOUS] Caused by mutation in the tuberin gene (TSC2, 191092.0001) [MOLECULAR BASIS] Majority of cases are sporadic [MISCELLANEOUS]
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