hrp0097p1-510 | Growth and Syndromes | ESPE2023
Garten Antje
, Hentschel Julia
, Richter Sandy
, Kiep Henriette
, Arelin Maria
, Platzer Konrad
, Merkenschlager Andreas
, Kiess Wieland
, Mayer Steffi
, Abou Jamra Rami
, Le Duc Diana
, Gerthe Kerkhof
, Anita Hokken-Koelega
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...