Autosomal recessive amino acid changes and stop variants in KICS2were identified in 11 affected individuals with intellectual disability. Functional characterization in cell culture models and zebrafish showed that a loss of KICS2 leads to an overactivation of mTORC1 activity. mTORC1 is an important pathway in every cell which regulates the rates of cell growth among other functions and is needs to be tightly regulated. KICS2 is part of the KICSTOR complex and these interactions are also impaired in some affected individuals.
KICS2