Nevertheless, proteinuria has long been recognized as a risk factor for kidney failure in Alport syndrome,9 and a recent single-center study of 24 women and girls found that those with “severe” COL4A5 variants (large deletions, rearrangements, truncating, splice site, and digenic variants) were more likely to have proteinuria and impaired kidney function than those with missense changes.14 The gene discussed is COL4A5; the disease is Alport syndrome.