ESPE Abstracts

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 ...