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    Fri Oct 21 2022

    Exploring the mutational landscape of genes associated with inherited retinal disease using large genomic datasets: identifying loss of function intolerance and outlying propensities for missense changes


    Background In many nations, inherited retinal diseases are the main cause of blindness in children and adults. Genes can be quantitatively described in terms of their susceptibility to loss of function and the frequency of missense mutations due to large databases. The study investigated these factors in genes for inherited retinal disorders. Methods Genes for inherited retinal diseases were categorized based on their propensity for loss of function intolerance. The criteria were used to identify genes such as haploinsufficiency score, upper bound of CI, and probability of loss of function intolerance. Also discovered were inherited retinal disease genes where missense variants appeared to be under- or over-represented. Key findings About 14% of genes under analysis were predicted to be loss of function intolerant. These criteria were more frequently met by X-linked inherited retinal diseases genes than autosomal inherited retinal diseases genes. The majority of autosomal genes were linked to dominant diseases. Missense variants were underrepresented in 14 genes. Missense variants were overrepresented in six genes. Conclusion The researchers concluded that a small subset of genes linked to inherited retinal disorders appear to be haploinsufficient. It was discovered that spliceosome pathways were overrepresented. Variants found in genes with an excess of missense variants should be treated with caution when interpreting genetic tests.


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