Notably, the variant frequencies of APC and CREBBP exceeded 60%, whereas variants of FLNA, SRGAP3, TLE4, CDH11, TET1, TLL1, SALL4, FAM46C, FZD2, ARID2, INPP4B, and WAS were found exclusively in LS CRCs. The gene discussed is FLNA; the disease is Leigh syndrome.