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Volume 14
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10.3390/genes14020447
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Article

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

by
Hafiz Muhammad Jafar Hussain
1,2,
Meng Wang
1,2,
Austin Huang
1,
Ryan Schmidt
3,
Xinye Qian
1,
Paul Yang
3,
Molly Marra
3,
Yumei Li
1,2,
Mark E. Pennesi
3 and
Rui Chen
1,2,*
1
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
2
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA
3
Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, OR 97239, USA
*
Author to whom correspondence should be addressed.
Genes 2023, 14(2), 447; https://doi.org/10.3390/genes14020447
Submission received: 16 January 2023 / Revised: 31 January 2023 / Accepted: 3 February 2023 / Published: 9 February 2023
(This article belongs to the Special Issue Feature Papers in Human Genomics and Genetic Diseases)
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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: inherited retinal diseases; whole-genome sequencing (WGS); targeted gene panels; whole-exome sequencing; deep intronic mutations inherited retinal diseases; whole-genome sequencing (WGS); targeted gene panels; whole-exome sequencing; deep intronic mutations

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MDPI and ACS Style

Hussain, H.M.J.; Wang, M.; Huang, A.; Schmidt, R.; Qian, X.; Yang, P.; Marra, M.; Li, Y.; Pennesi, M.E.; Chen, R. Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases. Genes 2023, 14, 447. https://doi.org/10.3390/genes14020447

AMA Style

Hussain HMJ, Wang M, Huang A, Schmidt R, Qian X, Yang P, Marra M, Li Y, Pennesi ME, Chen R. Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases. Genes. 2023; 14(2):447. https://doi.org/10.3390/genes14020447

Chicago/Turabian Style

Hussain, Hafiz Muhammad Jafar, Meng Wang, Austin Huang, Ryan Schmidt, Xinye Qian, Paul Yang, Molly Marra, Yumei Li, Mark E. Pennesi, and Rui Chen. 2023. "Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases" Genes 14, no. 2: 447. https://doi.org/10.3390/genes14020447

APA Style

Hussain, H. M. J., Wang, M., Huang, A., Schmidt, R., Qian, X., Yang, P., Marra, M., Li, Y., Pennesi, M. E., & Chen, R. (2023). Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases. Genes, 14(2), 447. https://doi.org/10.3390/genes14020447

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