Version 1
: Received: 7 June 2024 / Approved: 10 June 2024 / Online: 11 June 2024 (15:01:06 CEST)
How to cite:
Abu Elasal, M.; Mousa, S.; Salameh, M.; Blumenfeld, A.; Khateb, S.; Banin, E.; Sharon, D. Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes. Preprints2024, 2024060581. https://doi.org/10.20944/preprints202406.0581.v1
Abu Elasal, M.; Mousa, S.; Salameh, M.; Blumenfeld, A.; Khateb, S.; Banin, E.; Sharon, D. Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes. Preprints 2024, 2024060581. https://doi.org/10.20944/preprints202406.0581.v1
Abu Elasal, M.; Mousa, S.; Salameh, M.; Blumenfeld, A.; Khateb, S.; Banin, E.; Sharon, D. Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes. Preprints2024, 2024060581. https://doi.org/10.20944/preprints202406.0581.v1
APA Style
Abu Elasal, M., Mousa, S., Salameh, M., Blumenfeld, A., Khateb, S., Banin, E., & Sharon, D. (2024). Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes. Preprints. https://doi.org/10.20944/preprints202406.0581.v1
Chicago/Turabian Style
Abu Elasal, M., Eyal Banin and Dror Sharon. 2024 "Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes" Preprints. https://doi.org/10.20944/preprints202406.0581.v1
Abstract
Inherited retinal diseases (IRDs) are extremely heterogeneous with at least 350 causative genes, complicating the process of genetic diagnosis. We analyzed samples of 252 index cases with IRDs using the Blueprint Genetics panel for “Retinal Dystrophy” that includes 351 genes. The cause of disease could be identified in 55% of cases. A clear difference was obtained between newly-recruited cases (74% solved) and cases that were previously analyzed by panels or whole exome sequencing (26% solved). As for the mode of inheritance, 75% of solved cases were autosomal recessive (AR), 10% were X-linked, 8% were autosomal dominant, and 7% were mitochondrial. Interestingly, in 12% of solved cases, structural variants (SVs) were identified as the cause of disease. The most commonly identified genes were ABCA4, EYS and USH2A, and the most common mutations were MAK-c.1297_1298ins353 and FAM161A- c.1355_1356del. In line with our previous IRD carrier analysis, we identified heterozygous AR mutations that are not the cause of disease in 36% of cases. The studied IRD panel was found to be efficient in gene identification. Some variants were mis-interpreted by the pipeline and therefore multiple analysis tools are recommended to obtain more accurate annotation of potential disease-causing variant.
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
