ArticleFrontiers in genetics2026
Genetic heterogeneity correlated with phenotypic variability in 6 Chinese families with Alport syndrome.
Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Alport syndrome (AS) is a common hereditary kidney disease, mainly characterized by hematuria, progressive renal dysfunction, sensorineural hearing loss, and ocular symptoms, which significantly impacts patients the quality of life patients' quality of life and lifespan. However, due to its atypical and heterogeneous clinical features, the relationship between genotype and phenotype remains complex, posing AS diagnostic challenges. Method: Genetic variants were screened by whole exome sequencing (WES) followed by verification with Sanger sequencing. Genotype-phenotype analysis was also conducted, and a novel variant ( Results: We identified seven variants in six families, including autosomal dominant ( Conclusion: We identified four novel pathogenic changes causing AS, revealing the genetic heterogeneity of AS and expanding its genotype phenotype spectrum, holding significant implications for prenatal diagnosis.
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