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. 2020 May 22;8(8):e1281. doi: 10.1002/mgg3.1281

FIGURE 2.

FIGURE 2

Family pedigrees, genomic sequencing, and kidney biopsy specimens of patients with APO E‐Osaka/Kurashiki and APOE‐Chicago mutations. Family pedigrees of LPG patients with APOE‐Osaka/Kurashiki mutation (a, b) and APOE‐Chicago mutation (c). Arrows show the probands. (d, f) Representative chromatograms of control (upper) and mutant (lower) for both mutations. The positions of the Osaka/Kurashiki mutation (D)/Chicago mutation (f) are marked by arrow and red dashed boxes show the genetic code of arginine. (e, g) Multiple sequence alignment of different species shows that the substituted amino acids are highly conserved. (h) A representative glomerulus from patient F16A1578‐II1 shows marked dilatation of the capillary lumen in the glomeruli by a pale‐stained thrombus‐like substance (periodic acid‐Schiff stain). Immunofluorescence shows that apoE (i) and apoB (j) are present primarily in the capillary lumen. (k) Deposition of immunoglobulin A (IgA) was found in the glomerulus of patient F16A1578‐II1. GenBank accession no. NM_000041.4. Scale bars 100 μm