ArticleGenetics in medicine open2026
The landscape of variants in pre-mRNA-processing factor genes in an Irish cohort.
Article in Genetics in medicine open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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21 authors.
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Abstract
Purpose: Variants in pre-messenger RNA (mRNA) processing genes account for ∼15% to 20% of autosomal dominant retinitis pigmentosa, causing severe vision loss. We provide an in-depth characterization of pre-mRNA-processing variants in the population, with a focus on genotype-phenotype correlations. Methods: Participants underwent next-generation sequencing, variant filtering and interpretation. Impact(s) on protein structure/function were predicted through AlphaFold, ColabFold, among others. Clinical information was collated and segregation analysis undertaken. Variants were classified according to American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines. Results: A total of 635 patients with retinitis pigmentosa (RP) were screened. Notably, 36 different variants were identified in Conclusion: We provide a detailed overview of the genetic landscape of variants in pre-mRNA-processing factor genes in Ireland, accounting for 14% of genetically solved autosomal dominant retinitis pigmentosa cases. Results highlight significant genetic diversity between populations, mutational diversity inherent in inherited retinal degenerations and the role of variants in mRNA-processing genes as causative of devastating ocular disorders.
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