Language
English
Publication Date
2-9-2023
Journal
Genes
DOI
10.3390/genes14020447
PMID
36833373
PMCID
PMC9956865
PubMedCentral® Posted Date
2-9-2023
PubMedCentral® Full Text Version
Post-print
Abstract
Inherited retinal diseases (IRDs) are a diverse set of visual disorders that collectively represent a major cause of early-onset blindness. With the reduction in sequencing costs in recent years, whole-genome sequencing (WGS) is being used more frequently, particularly when targeted gene panels and whole-exome sequencing (WES) fail to detect pathogenic mutations in patients. In this study, we performed mutation screens using WGS for a cohort of 311 IRD patients whose mutations were undetermined. A total of nine putative pathogenic mutations in six IRD patients were identified, including six novel mutations. Among them, four were deep intronic mutations that affected mRNA splicing, while the other five affected protein-coding sequences. Our results suggested that the rate of resolution of unsolved cases via targeted gene panels and WES can be further enhanced with WGS; however, the overall improvement may be limited.
Keywords
Humans, Exome, Retinal Diseases, Whole Genome Sequencing, Mutation, Exome Sequencing, inherited retinal diseases, whole-genome sequencing (WGS), targeted gene panels, whole-exome sequencing, deep intronic mutations
Published Open-Access
yes
Recommended Citation
Hussain, Hafiz Muhammad Jafar; Wang, Meng; Huang, Austin; et al., "Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases" (2023). Faculty and Staff Publications. 4358.
https://digitalcommons.library.tmc.edu/baylor_docs/4358