Whole exome sequencing shows novel COL4A3 and COL4A4 variants as causes of Alport syndrome in Rio Grande do Norte, Brazil.

This study aims to identify the genetic mutations responsible for Alport syndrome in two unrelated Brazilian families affected by hereditary nephropathy. Whole Exome Sequencing was performed on four individuals from each pedigree (the proband, parents, and a sibling), revealing two novel COL4A3 and COL4A4 mutations on chromosome 2. Both mutations were found in a homozygous state within broad Runs of Homozygosity, suggesting inheritance patterns. These findings contribute to the genetic characterization of Alport syndrome, expanding knowledge of its molecular basis and potentially aiding future diagnostic and therapeutic approaches, particularly in understudied populations like those in northeastern Brazil.