| Autor: |
Gibson, J. (Joel), Fieldhouse, R. (Rachel), Chan, M. M. (Melanie M.Y.), Sadeghi-Alavijeh, O. (Omid), Burnett, L. (Leslie), Izzi, V. (Valerio), Persikov, A. V. (Anton V.), Gale, D. P. (Daniel P.), Storey, H. (Helen), Savige, J. (Judy) |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
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| Popis: |
Background: The reported prevalence of Alport syndrome varies from one in 5000 to one in 53,000 individuals. This study estimated the frequencies of predicted pathogenic COL4A3–COL4A5 variants in sequencing databases of populations without known kidney disease. Methods: Predicted pathogenic variants were identified using filtering steps based on the ACMG/AMP criteria, which considered collagen IV α3–α5 position 1 Gly to be critical domains. The population frequencies of predicted pathogenic COL4A3–COL4A5 variants were then determined per mean number of sequenced alleles. Population frequencies for compound heterozygous and digenic combinations were calculated from the results for heterozygous variants. Results: COL4A3–COL4A5 variants resulting in position 1 Gly substitutions were confirmed to be associated with hematuria (for each, P |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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