De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

ABSTRACT:

Purpose

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).

Methods

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.

Results

All proband-parent trios were divided into 22 subgroups, the overall diagnostic yield wa

SUBMITTER: Li W 

PROVIDER: S-EPMC9907368 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature