Under a homozygous recessive model, the only rare variant that segregated with the disease was an in-frame deletion, c.1633_1635delTTC in SGPL1. Kindred 4 comprised 2 affected siblings (patients 6 and 7), manifesting PAI and nephrotic syndrome (< 1 year for both), who had a canonical splice site change (c.261+1G>A; p.S65Rfs*6). This evidence concerns the gene SGPL1 and nephrotic syndrome.