Detecting Alu Element Insertion Variant in RP1 Gene Using Whole Genome Sequencing in Patients with Retinitis Pigmentosa
Abstract
1. Introduction
2. Materials and Methods
2.1. Patients
2.2. Analysis of Genetic Variants
2.3. Clinical Diagnosis of Retinitis Pigmentosa
3. Results
3.1. Case 1
3.2. Case 2
3.3. Case 3
4. Discussion
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Case No. | Sex | Age at Symptom Onset | Age at Diagnosis | Age at Genetic Examination | Best-Corrected Visual Acuity | Nucleotide Change (Protein Change) | Zygosity |
---|---|---|---|---|---|---|---|
1 | Male | 10s | 16 | 26 | RE 20/32 | c.4196delG (p.C1399 LeufsTer5) | Compound heterozygous |
LE 20/32 | Alu element insertion | ||||||
2 | Male | 20s | 37 | 40 | RE 20/200 | c.6181del (p.Ile2061fs12) | Compound heterozygous |
LE 20/63 | Alu element insertion | ||||||
3 | Male | 10s | 27 | 27 | RE 20/50 | c.6181del (p.Ile2061fs12) | Compound heterozygous |
LE 20/200 | Alu element insertion |
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Kwon, H.-J.; Lee, B.-H.; Lee, J.-Y. Detecting Alu Element Insertion Variant in RP1 Gene Using Whole Genome Sequencing in Patients with Retinitis Pigmentosa. Genes 2024, 15, 1290. https://doi.org/10.3390/genes15101290
Kwon H-J, Lee B-H, Lee J-Y. Detecting Alu Element Insertion Variant in RP1 Gene Using Whole Genome Sequencing in Patients with Retinitis Pigmentosa. Genes. 2024; 15(10):1290. https://doi.org/10.3390/genes15101290
Chicago/Turabian StyleKwon, Hye-Ji, Beom-Hee Lee, and Joo-Yong Lee. 2024. "Detecting Alu Element Insertion Variant in RP1 Gene Using Whole Genome Sequencing in Patients with Retinitis Pigmentosa" Genes 15, no. 10: 1290. https://doi.org/10.3390/genes15101290
APA StyleKwon, H.-J., Lee, B.-H., & Lee, J.-Y. (2024). Detecting Alu Element Insertion Variant in RP1 Gene Using Whole Genome Sequencing in Patients with Retinitis Pigmentosa. Genes, 15(10), 1290. https://doi.org/10.3390/genes15101290