Novel compound heterozygous <i>CNGA3</i> mutation associated with retinal cone dystrophy.

ABSTRACT: Retinal cone dystrophy (COD) is an inherited retinal disease characterized by reduced central vision, color vision defects and photophobia, resulting from the degeneration of photoreceptors in cone cells, and commonly occurs due to mutations in cyclic nucleotide-gated channel subunit α 3 (CNGA3). CNGA3 mutations are associated exclusively with autosomal recessive retinal disorders, requiring homozygous or compound heterozygous mutations for pathogenicity. In the present study, whole-exome sequencing was performed on a 9-year-old girl diagnosed with COD and her parents, which identified a compound heterozygous CNGA3 mutation in the proband. The previously reported c.C1001T:p.S334F variant was inherited from her mother and a novel frameshift mutation, c.566_567insT:p.R18

SUBMITTER: Sun R 

PROVIDER: S-EPMC12172610 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature