Abstract
Introduction.Alport syndrome is a rare multisystem disorder caused by mutations in the COL4A3, COL4A4, and COL4A5 genes. The relevance of studying Alport syndrome is due to its high frequency among inherited kidney diseases, its extreme genetic and phenotypic heterogeneity, the difficulty interpreting clinical and genetic diagnostic methods, and the presence of significant population differences in the frequency and spectrum of specific mutations.The aimof this study is to analyze whole-exome sequencing data in patients with clinical and laboratory suspicion of Alport syndrome to assess the diagnostic value of WES, characterize the spectrum of detected genetic variants, and identify factors influencing the effectiveness of molecular genetic diagnostics. Methods.Genomic DNA was isolated from blood samples of patients with suspected Alport syndrome. Whole-exome sequencing of the samples was performed, along with bioinformatic and statistical processing of the sequencing data.Results.Apreviously undescribed mutation in the intronic region of the COL4A5 gene, c.1588-2A>G, was identified, likely associated with Alport syndrome.Conclusions.This study highlights the importance of population genetic studies of Alport syndrome, particularly the study of the intronic regions of the COL4A3, COL4A4, and COL4A5 genes.Keywords:Alport syndrome, X-linked Alport syndrome, whole-exome sequencing, genotype-phenotype correlation, splicing disorders.