Patients with Mutations in NPHS2 (Podocin) Do Not Respond to Standard Steroid Treatment of Nephrotic Syndrome

Figure 1. NPHS2 mutations observed in 165 families with steroid-resistant nephrotic syndrome (SRNS). The schematic diagram depicts the eight NPHS2 exons. Missense mutations are indicated above the exon bar, as colored circles. The amino acid change in the podocin gene is indicated above the circles. Splice site and frameshift mutations are shown below the exon bar and are symbolized as colored bars, indicating the position of truncation. Mutations are color-coded; novel mutations not previously described are red, previously reported mutations observed again in the 165 families with SRNS are orange, and mutations previously described by our group (14) are green. The frequencies of the different mutations observed among the 165 families with SRNS are indicated by the different numbers of circles. Each circle or bar is equivalent to one mutation observed among 165 families with SRNS, corresponding to the data presented in Table 1.