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Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases

Authors :
Hafiz Muhammad Jafar Hussain
Meng Wang
Austin Huang
Ryan Schmidt
Xinye Qian
Paul Yang
Molly Marra
Yumei Li
Mark E. Pennesi
Rui Chen
Source :
Genes, Volume 14, Issue 2, Pages: 447
Publication Year :
2023
Publisher :
Multidisciplinary Digital Publishing Institute, 2023.

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.

Details

Language :
English
ISSN :
20734425
Database :
OpenAIRE
Journal :
Genes
Accession number :
edsair.doi.dedup.....9c538307364c54683c81d2daf10d83a0
Full Text :
https://doi.org/10.3390/genes14020447