Supplementary Figure 1: Homozygosity mapping and WES identify NUP93 mutations in two additional families with steroid-resistant nephrotic syndrome.

(a) Homozygosity mapping identifies recessive candidate loci. In two families with nephrotic syndrome, A1626 and A2241, non-parametric LOD scores (NPL) were calculated and plotted across the human genome. The x axis shows Affymetrix 250K StyI array SNP positions on human chromosomes concatenated from the p terminus (left) to the q terminus (right). Genetic distance is given in cM. Maximum NPL peaks (red circles) indicate candidate regions of homozygosity by descent. The NUP93 locus (arrowhead) is positioned within one of the maximum NPL peaks on chromosome 16q. (b) Primer location for RT-PCR analysis of an individual with a splice-site mutation in NUP93 (red and blue arrows, referring to c and d, respectively). (c,d) RT-PCR analysis of the NUP93 transcript in patient A1394-21 harboring the c.1537+1G>A mutation in intron 13 and a control individual using primers located in exons 11 and 14 (c) and exons 12 and 14 (d). In addition to the wild-type bands of 518 bp (c) or 405 bp (d) corresponding to normal splicing, bands of 326 bp (c) and 213 bp (d), respectively, were detected in the cDNA of individual A1394-21. (e) Sanger sequencing of the RT-PCR product from A1394-21 showed that the c.1537+1G>A mutation leads to aberrant splicing, with in-frame skipping of exon 13 (192 bp).