Comprehensive functional splicing analysis of non-canonical CNGB3 variants using in vitro minigene splice assays.

ABSTRACT: Variants in the CNGB3 gene, encoding the B3-subunit of the cone photoreceptor cyclic nucleotide gated channel, are a major cause of autosomal recessive achromatopsia, a rare inherited retinal disease. The mutation spectrum of achromatopsia-associated CNGB3 variants comprises all types of mutations, including those that are straightforward to evaluate in molecular genetic diagnostics, such as frame-shifting, nonsense, and canonical splice site variants. Additionally, variants have been identified within splice regions outside the conserved ±1,2 splice site dinucleotides, making their potential impact on disease association challenging to interpret. This poses a major hurdle for clinical interpretation of causality between the patient's genotype and the proposed clinical diagnosis, but also

SUBMITTER: Rawnsley K 

PROVIDER: S-EPMC12146803 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature