ArticleEuropean journal of human genetics : EJHG2018
Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Mathematical Model to Assess Mutational Burden in Retinal Dystrophy Patients Negative to Mendelian Genetic Tests and Carriers of Multiple Recessive Variants.Journal of ophthalmic & vision research · 2026Article
- Structure-Function Diversity of Calcium-Binding Proteins (CaBPs): Key Roles in Cell Signalling and Disease.Cells · 2025Review
- Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.Genes · 2024Article
- Comparison of Worldwide Disease Prevalence and Genetic Prevalence of Inherited Retinal Diseases and Variant Interpretation Considerations.Cold Spring Harbor perspectives in medicine · 2024Review
- A proteogenomic atlas of the human neural retina.Frontiers in genetics · 2024Article
- Gene augmentation therapy attenuates retinal degeneration in a knockout mouse model of Fam161a retinitis pigmentosa.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy.Translational vision science & technology · 2023Article
- Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.Frontiers in genetics · 2022Article
- Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.PLoS genetics · 2021Article
- Article
- Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.Molecular genetics and metabolism reports · 2021Article
- Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- The co-occurrence of rare non-ocular phenotypes in patients with inherited retinal degenerations.Molecular vision · 2019Article
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Authors and funding
12 authors.
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Abstract
Inherited retinal diseases (IRDs) are heterogeneous phenotypes caused by variants in a large number of genes. Disease prevalence and the frequency of carriers in the general population have been estimated in only a few studies, but are largely unknown. To this end, we developed two parallel methods to calculate carrier frequency for mutations causing autosomal-recessive (AR) IRDs in the Israeli population. We created an SQL database containing information on 178 genes from gnomAD (including genotyping of 5706 Ashkenazi Jewish (AJ) individuals) and our cohort of >2000 families with IRDs. Carrier frequency for IRD variants and genes was calculated based on allele frequency values and the Hardy-Weinberg (HW) equation. We identified 399 IRD-causing variants in 111 genes in Israeli patients and AJ controls. For the AJ subpopulation, gnomAD and HW-based regression analysis showed high correlation, therefore allowing one to use HW-based data as a reliable estimate of carrier frequency. Overall, carrier frequency per subpopulation ranges from 1/2.2 to 1/9.6 individuals, with the highest value obtained for the Arab-Muslim subpopulation in Jerusalem reaching an extremely high carrier rate of 44.7%. Carrier frequency per gene ranges from 1/31 to 1/11994 individuals. We estimate the total carrier frequency for AR-IRD mutations in the Israeli population as over 30%, a relatively high carrier frequency with marked variability among subpopulations. Therefore, these data are highly important for more reliable genetic counseling and genetic screening. Our method can be adapted to study other populations, either based on allele frequency data or cohort of patients.
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