COL4A4 and kidney disorder: All patients with a family history of renal diseases (2/2 = 100%) had P/LP variants, one with a novel variant, c.905delG (p.Gly302ValfsTer23) in COL4A4, and the other with a known variant, c.737G > A (p.Arg246Gln) in LMX1B. In 51 sporadic cases, the mutation detection rate was 7.8% (2/51).