PMC6393538_01
PMC6393538_02
a Glomerulus with a lobular architecture and mesangial expansion with capillary loop obliteration (periodic acid-Schiff, x20) b Electron microscopy of the glomerular basement membrane showing subendothelial finely granular fibrillary deposits (x23,000 direct magnifications). c Glomerulus microdissected for proteomic analysis with lobular architecture (Congo red, x20). d List of proteins identified by proteomic analysis in three different glomeruli (1-3). Fibronectin is the most abundant protein in all three samples. "B" represents a blank (control) sample. The numbers indicate peptide spectra identified for each protein in each sample
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Fig1
Double contours were present on silver staining (Fig. 1a). There were abundant, finely granular 6-10 nm fibrillary deposits in subendothelial and mesangial locations causing capillary loop obliteration (Fig. 1b). These fibrils were suggestive of FN, and the deposits were examined by liquid chromatography-tandem mass spectrometry, which confirmed the presence of FN (Fig. 1c, d).
Family pedigree: the proband is indicated with an arrowhead
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Fig2
Clinvar (NM_212482.2) by Ambry in 2013. Co-segregation analysis revealed that the affected father also has the heterozygous alteration, while the unaffected brother does not have the alteration (Fig. 2).