Expanding the <i>COL4A4</i> variant spectrum: genotype-phenotype correlation in 19 Chinese children using updated Alport kidney disease classification.

ABSTRACT: Background: Variants in the COL4A4 gene have been identified as a significant cause of autosomal Alport syndrome. This study aimed to investigate the genetic features, clinical manifestations, and genotype-phenotype correlations in Chinese children with COL4A4 variants.Methods: 19 children with COL4A4 variants who presented with hematuria and/or proteinuria as their main complaints were included in our analysis. Genetic variants were identified using next-generation sequencing, Sanger sequencing and comprehensive bioinformatics analysis. Clinical data and family histories were retrospectively collected.Results: A total of 17 distinct COL4A4 variants were identified, 10 of which had not been previously described (10/17). Among these novel var

SUBMITTER: Huang Y 

PROVIDER: S-EPMC12523472 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature