ESPE Abstracts

Introduction&Aim: Activation of mechanistic target of rapamycin (mTOR) as a major regulator of adipogenesis and lipid accumulation is controlled by upstream regulators hamartin/tuberous sclerosis complex (TSC) 1 and tuberin/TSC2. Hamartin and tuberin form a protein complex that inhibits signal transduction to mTOR. The impact of TSC1 deficiency is not clearly defined in human adipose tissue. We identified a likely pathogenic TSC1 splicing variant in a lipo...

Background: Tuberous Sclerosis Complex Subunit 1 (TSC1) encodes for the growth inhibitory protein hamartin, which suppresses mTOR signaling. Patients with TSC1 pathogenic variants are prone to developing benign tumors in the brain, kidneys, heart, skin, lungs, and other organs. We identified a likely pathogenic heterozygous germline TSC1 splicing variant NM_000368.5: c.737 +3A>G, r.664_737del, p. (Pro222Valfs*8) in a boy ...