biostudies-literatureUnknown64(2)Li W<h4>Purpose</h4>The purpose of this study was to describe genotype-phenotype associations and novel insights into genetic characteristics in a trio-based cohort of inherited eye diseases (IEDs).<h4>Methods</h4>To determine the etiological role of de novo mutations (DNMs) and genetic profile in IEDs, we retrospectively reviewed a large cohort of proband-parent trios of Chinese origin. The patients underwent a detailed examination and was clinically diagnosed by an ophthalmologist. Panel-based targeted exome sequencing was performed on DNA extracted from blood samples, containing coding regions of 792 IED-causative genes and their flanking exons. All participants underwent genetic testing.<h4>Results</h4>All proband-parent trios were divided into 22 subgroups, the overall diagnostic yield waInvestigative ophthalmology & visual science5https://www.ebi.ac.uk/biostudies/studies/S-EPMC9907368biostudies-literatureDe Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.PMC9907368Han XTJin XGuo SCHe XDChen YXYang HMSun YMa YTLi WHan DMHe WYang ZTWang ZSGao YLi JKfalseDe Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.<h4>Purpose</h4>The purpose of this study was to describe genotype-phenotype associations and novel insights into genetic characteristics in a trio-based cohort of inherited eye diseases (IEDs).<h4>Methods</h4>To determine the etiological role of de novo mutations (DNMs) and genetic profile in IEDs, we retrospectively reviewed a large cohort of proband-parent trios of Chinese origin. The patients underwent a detailed examination and was clinically diagnosed by an ophthalmologist. Panel-based targeted exome sequencing was performed on DNA extracted from blood samples, containing coding regions of 792 IED-causative genes and their flanking exons. All participants underwent genetic testing.<h4>Results</h4>All proband-parent trios were divided into 22 subgroups, the overall diagnostic yield wa2023-01-01T00:00:00Z2023 Feb2026-05-28T12:46:51.891Z2025-04-05T19:41:35.963ZS-EPMC99073683672944310.1167/iovs.64.2.5