The combination of the two COL4/LAMA5 variants was identified in all the severely affected family members while the single pathogenic COL4A4 mutation was found both in the first cousin (III;4) presenting with just episodic microhematuria at the age of 26 years and in two asymptomatic individuals (III;2 and III;3), evaluated at the age of 50 years, allowing us to conclude that the COL4A4 mutation is not sufficient by itself for the phenotype to be displayed. This evidence concerns the gene COL4A4 and Microscopic hematuria.