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• W2544329343 startingPage "e0165405" @default.
• W2544329343 abstract "Purpose When seeking a confirmed molecular diagnosis in the research setting, patients with one descriptive diagnosis of retinal disease could carry pathogenic variants in genes not specifically associated with that description. However, this event has not been evaluated systematically in clinical diagnostic laboratories that validate fully all target genes to minimize false negatives/positives. Methods We performed targeted next-generation sequencing analysis on 207 ocular disease-related genes for 42 patients whose DNA had been tested negative for disease-specific panels of genes known to be associated with retinitis pigmentosa, Leber congenital amaurosis, or exudative vitreoretinopathy. Results Pathogenic variants, including single nucleotide variations and copy number variations, were identified in 9 patients, including 6 with variants in syndromic retinal disease genes and 3 whose molecular diagnosis could not be distinguished easily from their submitted clinical diagnosis, accounting for 21% (9/42) of the unsolved cases. Conclusion Our study underscores the clinical and genetic heterogeneity of retinal disorders and provides valuable reference to estimate the fraction of clinical samples whose retinal disorders could be explained by genes not specifically associated with the corresponding clinical diagnosis. Our data suggest that sequencing a larger set of retinal disorder related genes can increase the molecular diagnostic yield, especially for clinically hard-to-distinguish cases." @default.
• W2544329343 created "2016-11-04" @default.
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• W2544329343 date "2016-10-27" @default.
• W2544329343 modified "2023-10-08" @default.
• W2544329343 title "Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis" @default.
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• W2544329343 doi "https://doi.org/10.1371/journal.pone.0165405" @default.
• W2544329343 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5082937" @default.
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