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. 2013 Jul 8;123(8):3243–3253. doi: 10.1172/JCI69134

Figure 1. Mapping and WER reveal a novel single-gene cause of NS (ARHGDIA).

Figure 1

(A) Homozygosity mapping in family A1432 consisting of 2 siblings with SRNS. NPL scores are plotted across the human genome. The x-axis shows SNP marker positions on human chromosomes concatenated from p-ter (left) to q-ter (right). Genetic distance is given in centimorgans. Maximum NPL peaks indicate the candidate regions of homozygosity by descent (red circles). The gene ARHGDIA is positioned (arrowhead) within one of the mapped candidate regions. (B) Chromatograms of ARHGDIA mutations in SRNS families A1432 and A4578. Gene symbols (underlined), family numbers, mutations, and predicted translational changes are given (see also Table 1). Sequence traces are shown for mutations above normal controls. Mutated nucleotides are indicated by arrowheads. (C) Renal histology of individual A4578-21 with DMS and an ARHGDIA mutation. Right kidney explanted at 2 months of age reveals on H&E staining advanced tubular dilation, atrophy, and casts (left). Original magnification, ×50. PAS stain (right) reveals the characteristic pattern of DMS featuring a small, sclerosed, simplified glomerulus with a corona of vacuolized podocytes (arrowhead). Original magnification, ×630.