LAMA5 and cystic kidney disease: These facts, added to the population data mentioned above, enhance the likelihood that DNA variant LAMA5-p.Pro1243Leu is a mutation, probably a hypomorphic one, since the patients we identified exhibit a great phenotypic similarity with these animal models, presenting with hematuria, proteinuria, renal impairment, thinning and thickening of the GBM, podocyte foot processes effacement and multiple renal cysts.