The Israeli population consists of many ethnic groups with distinctive genetic variations that are relatively frequent in each subpopulation [17] Ashkenazi Jews are known to carry several founder disease-causing variants for Alport syndrome: COL4A5 c.5048G>A (NM_033380.3) p.Arg1683Gln, which causes X-linked Alport syndrome, and COL4A3 c.40_63del (NM_000091.5) p.Leu14_Leu21del, which causes autosomal recessive Alport syndrome. Here, COL4A3 is linked to autosomal recessive Alport syndrome.