Alport syndrome is a condition that develops due to mutations in three different genes – COL4A3, COL4A4 and COL4A5. The reason that the syndrome has a significant impact on the kidneys is ...

Alport syndrome is a progressive hereditary kidney disease with no definitive therapy. It is caused by mutations in any of the collagen IV genes (COL4A3, COL4A4, and COL4A5). Researchers in Japan ...

Homozygous or compound heterozygous mutations in COL4A3 or COL4A4 are the cause of autosomal recessive AS (ARAS), while a single mutation in either of these genes causes autosomal dominant AS (ADAS).