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Cone-rod dystrophy (CORD) is a hereditary retinal disorder with primary cone impairment and subsequent rod involvement. To date, mutations responsible for CORD have been reported in 24 genes. However, the systemic evaluation of variants in these genes in a cohort of patients is rare, particularly in East Asia. In this study, 58 coding exons from 20 CORD genes, including 35 exons with previously identified mutations in 17 genes and all 23 coding exons for the other 3 genes (GUCY2D, PRPH2 and KCNV2), were analyzed by cycle sequencing on 130 unrelated probands with CORD. Four heterozygous mutations, 1 novel and 3 known, were detected in 4/130 patients, including c.259G&gt;A (p.Asp87Asn) in UNC119, c.2512C&gt;T (p.Arg838Cys) and c.2513G&gt;A (p.Arg838His) in GUCY2D and c.946T&gt;G (p.Trp316Gly) in PRPH2. The result implies a comparatively low rate of mutations in these exons in Chinese patients. These data suggest that in Chinese patients, CORD may be caused by mutations in exons that have not yet been screened or in genes that have yet to be identified. Further analysis of these patients may provide clarification.

Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy