CCT2 and Leber congenital amaurosis 6: We previously identified CCT2 as a causal gene for autosomal recessive LCA6; compound heterozygous mutations in CCT2 led to missense mutations (T400P [rs757710808] and R516H [rs762366874]) in CCTβ protein that reduced the stability of the TRiC/CCT chaperonin complex.