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AES 2022 | Key questions in TSC genetics: novel loci, mosaicism, and genotype-phenotype correlations

Gabrielle Rushing, PhD, TSC Alliance, discusses ongoing investigations into the genetics of tuberous sclerosis complex (TSC). TSC is caused by mutations on TSC1 or TSC2, which cause overactivation of the mTOR complex. Research over the last decade has advanced our understanding of TSC neuropathology and the cellular consequences of variants in the TSC1/2 genes. However, around 15% of the TSC population have no identified mutation and, in these cases, the mechanisms of disease remain unclear. Mosaicism for TSC1/2 mutations, the existence of an unknown TSC locus, and detection failure could all be at play here. As well as those with no identifiable mutation, there is substantial symptom variability in patients with a TSC1/2 mutation. Dr Rushing describes ongoing investigations looking into potential genetic modifiers, as well as genotype/phenotype correlations between specific mutation types and associated clinical manifestations. It is hoped that further genetic investigation in TSC could identify characteristics associated with a given gene variant to inform future personalized medicine efforts. This interview took place at the American Epilepsy Society (AES) Annual Meeting 2022 in Nashville, TN.

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