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Genetic analysis reveals distinct mutational patterns in autosomal recessive rod-cone dystrophy genes, highlighting exon-specific variations across retinal disease phenotypes.
Background: Rod-cone dystrophy (RCD) is the most common inherited retinal disease that is characterised by the progressive degeneration of retinal photoreceptors. RCD genes classification is based exclusively on gene mutations' prevalence and does not consider the implication of the same gene in different phenotypes. Therefore, we first investigated the mutations occurrence in autosomal recessive RCD (arRCD) and non-arRCD conditions. Then, finally, we identified arRCD enriched mutational patterns in specific genes and coding exons. Methods and Conclusion: The current analysis showed that many aRCD genes have unique mutational patterns.
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Jaffal et al. (2022) studied this question.
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