In 2018, Csukasi and colleagues reported a new skeletal dysplasia caused by a homozygous mutation in the catalytic domain of SIK3 (Arg187Cys) and observed decreased activity of mTORC1 and mTORC2 due to accumulation of DEPTOR, a negative regulator of both mTOR complexes (61). Here, MTOR is linked to skeletal dysplasia.