CRX variants in cone–rod dystrophy and mutation overview

Mutations in the cone–rod homeobox gene (CRX) are associated with cone–rod dystrophy (CORD), Leber congenital amaurosis (LCA), and, in rare cases, retinitis pigmentosa (RP). In this study, three variations were detected in 3 of 130 families with CORD, including two novel mutations, c.239A>G (p.Glu80Gly) and c.362C>T (p.Ala121Val). So far, 49 mutations in CRX were reported, affecting about 2.35% of LCA, 4.76% of CORD, and 0.80% of RP. These mutations can be classified as missense (38.78%), nonsense (4.08%), deletion (36.73%), insertion (16.33%), and indel (4.08%). They distributed in the three coding exons without mutation hot spots. No clear genotype–phenotype correlation could be established so far.

► CRX variants in 3 of 130 families with CORD were identified. ► Forty-nine mutations affecting 86 alleles were reviewed and summarized. ► So far there are no mutation hot spots. ► CRX mutations affected about 2.35% of LCA, 4.76% of CORD, and 0.80% of RP. ► No clear genotype–phenotype correlation could be established.