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Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel
Sapir Shalom1,2, Mor Hanany1, Avital Eilat1
1Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel.
Genes
|May 25, 2024
Summary
A new Cost-effective Deep-sequencing IRD Panel (CDIP) enables simultaneous sequencing of common mutations for inherited retinal diseases (IRDs). This tool aids in the genetic diagnosis of IRDs, particularly in populations with founder effects.
Area of Science:
- Genetics
- Ophthalmology
- Molecular Biology
Background:
- Inherited retinal diseases (IRDs) are a diverse group of genetic disorders causing vision loss.
- Genetic diagnosis of IRDs is complex due to mutations in over 250 genes.
- Current diagnostic methods can be time-consuming and challenging.
Purpose of the Study:
- To develop a cost-effective tool for simultaneous sequencing of common mutations in IRDs.
- To improve the efficiency and accessibility of genetic diagnosis for IRDs.
- To validate a new next-generation sequencing (NGS) panel for IRD genetic analysis.
Main Methods:
- Development of the Cost-effective Deep-sequencing IRD Panel (CDIP).
- Simultaneous amplification of 47 amplicons harboring common IRD mutations.
- Next-generation sequencing (NGS) followed by rigorous calibration and analysis.
Main Results:
- CDIP was applied to 740 IRD samples after calibration.
- The panel identified 151 mutations in 131 index cases.
- CDIP successfully identified the genetic cause in 7% of cases, including specific examples of retinoschisis and retinitis pigmentosa.
Conclusions:
- CDIP is an effective and cost-efficient method for detecting common founder mutations in IRDs.
- The protocol can be adapted for other populations and inherited diseases, especially those with founder effects.
- This approach facilitates faster and more accessible genetic diagnosis for inherited retinal diseases.
